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Volume 1; Issue 2
Main
Genetics in Medicine
Volume 1; Issue 2
Genetics in Medicine
Volume 1; Issue 2
1
Infantile Huntington's disease in Mexico's National Institute of Neurology and Neurosurgery
Rasmussen, A
,
Alonso, M E
,
Macias, R
,
Yescas, P
,
Ochoa, A
,
Dávila, G
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
Your tags:
english, 1999
2
Identification of candidate genes involved in genitourinary malformations
Overhauser, J
,
Frizell, E R
,
Dolsky, R
,
Rojas, K
,
Sutphen, R
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 124 KB
Your tags:
1999
3
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis
Alvarez-Nava, F
,
Ortiz, R
,
Rojas, A
,
Revol, A
,
Martfnez, I
,
Martinez, S
,
Soto, M
,
Borias, L
,
Barrera, H
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 116 KB
Your tags:
english, 1999
4
poster listings
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 304 KB
Your tags:
1999
5
poster listings
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 304 KB
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english, 1999
6
Experience with Mucolipidosis Type IV in Newfoundland
Prasad, C
,
Buckley, D J
,
Pushpanathan, C
,
Ives, E J
,
Goldin, E
,
Schiffinann, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 82 KB
Your tags:
english, 1999
7
Breast C.A.R.E. Breaks: An Innovative Cancer Genetics Education Model For Health Care Professionals
Hampel, H
,
Gregory, P
,
Graham, J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 127 KB
Your tags:
english, 1999
8
Trisomy 8 in cervical cancer
Feldman, D
,
Das, S
,
Kye, H
,
Sun, C-L
,
Samy, M
,
Mark, H F L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1999
9
A Dermatofibrosarcoma Protuberans (DFSP) with complex clonal chromosomal findings and absence of ring chromosomes
Hostetter, G
,
Freeman, J
,
Naeem, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1999
10
Molecular Cytogenetic Characterization of Chromosome Markers
Lozzio, C B
,
Lyall, L
,
Bamberger, E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1999
11
A small paracentric inversion of chromosome 18, inv(18) (q22.1q23), in a woman with multiple congenital anomalies and mental retardation
Sekhon, G S
,
Scheib-Wixted, S
,
Williams, M S
,
Reveles, X T
,
Leach, R J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 111 KB
Your tags:
english, 1999
12
Prenatal diagnosis of a non-fluorescent Y chromosome as characterized by FISH-technique
Silverman, M N
,
Shklovskaya, T
,
Macera, M J
,
Verma, R S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 126 KB
Your tags:
english, 1999
13
An unusual case of pseudodicentric Xq and one possible mechanism
Sullivan, J
,
Murray, M
,
Ratti, A
,
Marini, T
,
Naeem, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 126 KB
Your tags:
english, 1999
14
Molecular analysis in true hermaphroditism
Alvarez-Nava, F
,
Ortiz, R
,
Roias, A
,
Soto, M
,
Borajas, L
,
Barrera, H
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 116 KB
Your tags:
english, 1999
15
Prevalence of common mutations of the MTHFR gene in a Puerto Rican population
Ayala-Rivera, M A
,
Renta, J
,
García, I
,
Garcia, L
,
de La Vega, A
,
Santiago-Borrero, P J
,
Cadilla, C L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 116 KB
Your tags:
english, 1999
16
Hemoglobin S haplotypes among sickle cell patients in the Puerto Rican population
Lopez, C R
,
Rodriguez, A
,
Rivera-Caragol, E
,
Santiago-Borrero, P J
,
Cadilla, C L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 127 KB
Your tags:
english, 1999
17
Towards the implementation of population -based genetic hemochromatosis screening in Germany
Schöffski, O
,
Schmidtke, J
,
Stuhrmann, M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
Your tags:
english, 1999
18
Teaching Clinical Genetics to Pediatric Residents in an Outpatient Setting: A Proposed Model
Jaquez, M
,
Haun, R
,
Frye, R
,
Frazer, T
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 138 KB
Your tags:
english, 1999
19
Atypical Down Syndrome phenotype with translocation Trisomy 21
Welch, J
,
Kermler-Noreuil, K
,
Major, H
,
Qiau, Q
,
Epstein, C
,
Patil, S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 123 KB
Your tags:
english, 1999
20
Parental mosaicism for a point mutation in a type III collagen (COI3AI) allele produces Ehlers-Danlos type IV (EDS4) in heterozygous offspring
Nardi, C
,
Schwarze, U
,
Bufill, J A
,
Sinha, B
,
Pepin, M
,
Byers, P H
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 125 KB
Your tags:
english, 1999
21
Limb deformations in oligohydramnios sequence: effects of gestational age and duration of oligohydramnios
Christianson, C
,
Huff, D
,
Mcpherson, E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 125 KB
Your tags:
english, 1999
22
Oro-facio-digital syndrome or Joubert syndrome?
Hauq, K
,
Khan, S
,
Koniq, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 127 KB
Your tags:
english, 1999
23
Distal 5q Trisomy resulting from an X;5 translocation detected by chromosome painting
Abuelo, D N
,
Ahsanuddin, A N
,
Mark, H F L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
Your tags:
english, 1999
24
Genetic studies in the focal dermal hypoplasia of Goltz syndrome
Schnur, R E
,
Reed, L A
,
Mockridge, K A
,
Geo, M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 131 KB
Your tags:
english, 1999
25
Williams syndrome: analysis by R-bands, G-bands and fluorescent in situ hybridyzation techniques
Bérubé, D
,
Gagné, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
Your tags:
english, 1999
26
invited speakers and moderators
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 281 KB
Your tags:
english, 1999
27
Novel Protein Truncation Test to detect COL2AI Nonsense Mutations in Stickler syndrome
Savarirayan, Ravi
,
Freddi, Susanna
,
Bateman, John F
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 145 KB
Your tags:
english, 1999
28
Karyotyping miscarriage tissue in the managed care environment
Karson, E M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
Your tags:
english, 1999
29
Implications of atypical biochemical data in a case of presumed anencephaly
Marini, T
,
Sullivan, J
,
Murray, M
,
Kanaan, C
,
Boyd, T
,
Naeem, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
Your tags:
english, 1999
30
Hirschsprung's disease in a patient with translocation resulting in a partial trisomy of the long arm of chromosome
Garcia Soto, E M
,
Goodman, B K
,
Thomas, G
,
Theda, C
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 126 KB
Your tags:
english, 1999
31
Fetal Valproate Syndrome (FVS) through the USF Teratogen Information Service (TIS)
Kousseff, B G
,
Sage, S
,
Jervis, G
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1999
32
A New Variation on an Old Theme: Subtleties of the Smith-Lemli-Opitz Syndrome (RSH/SLOS)
Yoon, G
,
Nezarati, M M
,
Fung, E
,
Snyder, F F
,
Graham, G E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 68 KB
Your tags:
english, 1999
33
New point mutation in the RET oncogene among an African American kindred with MEN II-A in Puerto Rico
Cadilla, C L
,
Vázquez, G
,
Alcántra, A
,
Renta, J Y
,
Aguiló, F
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 128 KB
Your tags:
english, 1999
34
Epidermal growth factor's role on human hepatocellular carcinoma transplanted into nude mice
Zhao, Xiangyanq
,
Zhu, S L
,
Wanq, T X
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
Your tags:
english, 1999
35
general information
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 158 KB
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english, 1999
36
program information
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 177 KB
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english, 1999
37
program committee
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 86 KB
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english, 1999
38
ACMG board of directors
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 75 KB
Your tags:
english, 1999
39
A unique point mutation in the PMP22 gene is associated with Deafness, Charcot-Marie-Tooth and Anticipation
Kimonis, V E
,
Kovach, M J
,
Lin, J-P
,
Boyadjiev, S
,
Campbell, K
,
Mazzeo, L
,
Herman, K
,
Frank, W
,
Llewellyn, B
,
Jabs, E W
,
Gelber, D
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 145 KB
Your tags:
english, 1999
40
Gestational age and risk for congenital defects: a population-based study
Rasmussen, S A
,
Moore, C A
,
Paulozzi, L
,
Rhodenhiser, E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 145 KB
Your tags:
english, 1999
41
A retrospective FISH study of HER-2/neu oncogene amplification in relapsed and non-relapsed node-negative breast cancer
Mark, H F L
,
Aswad, B
,
Taylor, W
,
Samy, M
,
Sun, C-L
,
Brown, S
,
Das, S
,
Berg, J
,
Bland, K I
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 60 KB
Your tags:
english, 1999
42
Exclusion of linkage to chromosome 3q in some familial cases of the Cornelia deLange Syndrome
Krantz, I D
,
Conti, B P
,
Hofreiter, M
,
Jackson, L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 143 KB
Your tags:
english, 1999
43
Recent progress in identification of the X-linked Spinal Muscular Atrophy (XLSMA) gene confirms a major disease locus between Xpl 1.3-Xpl 1.2
Baumbach, L L
,
Dressman, D
,
Meindl, A
,
Hoffman, E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 143 KB
Your tags:
english, 1999
44
Heterogeneity of ApolipoproteinE polymorphisE and its Isoforms in Five caste groups of Punjab, India
Singh, Puneetpal
,
Balgir, P P
,
Banal, I J S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 83 KB
Your tags:
english, 1999
45
Cole-Carpenter Syndrome - A case report
Amor, D J
,
Bankier, A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
Your tags:
english, 1999
46
Mixoploidy with a Proteus syndrome phenotype
Claus, J A
,
Farag, H A
,
Kousseff, B G
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 125 KB
Your tags:
english, 1999
47
Cerebrovascular accident leading to cortical blindness in a patient with bird-headed dwarfism
Haiianpour, M J
,
Jamali, A
,
Sayar, S H
,
Halianpour, A K
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 126 KB
Your tags:
english, 1999
48
45,X/46,XY Mosaicism: Clinical management and Counseling Issues
Kukolich, M K
,
Martin, S L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1999
49
Duplication 17p11.2 in two patients: clinical features and molecular cytogenetic findings
Powell, C M
,
Aylsworth, A S
,
Kaiser-Rogers, K A
,
Rao, K W
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 134 KB
Your tags:
english, 1999
50
An unusual case of Smith-Lemli-Opitz syndrome and first trimester ultrasonographic exclusion in a subsequent pregnancy
Roberts, R M
,
Kelleys, R J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 128 KB
Your tags:
english, 1999
51
Brain and cranial disruption sequence from amniotic bands: a result of traction from fetal and embryonic swallowing of attached bands
Roberts, R M
,
Blackbum, W
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
Your tags:
english, 1999
52
Human 27-kDa heat shock protein (hsp27) gene family: chromosomal band assignments and possible involvement in Williams syndrome deletion
Dennis, T R
,
Snallone, P A
,
Hickey, E
,
Weber, L A
,
Morris, C A
,
Stock, A D
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 119 KB
Your tags:
english, 1999
53
Mosaicism for duplication of 17q21 · qter with lymphedema and normal phenotype
Descartes, M
,
Baldwin, L
,
Cosper, P
,
Carroll, A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1999
54
Discordant detection of monosomy 7 by GTG banding and FISH in a patient with Schwachman-Diamond syndrome
Sokolic, R A
,
Ferguson, W
,
Mark, H F L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 126 KB
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english, 1999
55
Author Index
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 164 KB
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english, 1999
56
Prenatal diagnosis and carrier detection of albinism
Rosenmann, A
,
Rosenmann, E
,
Bejarano-Achache, I
,
Blumenfeld, A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 145 KB
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english, 1999
57
Variable expressivity of Familial Medullary Thyroid Carcinoma (FMTC) due to a RET V804M (GTGG→ATG) mutation in two families: Reluctance of gene carriers to accept prophylactic thyroidectomy
Feldman, G L
,
Schuffeneeker, I
,
Lenoir, G M
,
Saxe, A W
,
Roberson, J R
,
Petrucelli, N
,
Jackson, C E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 74 KB
Your tags:
english, 1999
58
Transmission of a Fragile X full mutation from a premutation male to his two daughters
Bridge, P J
,
Dimnik, L S
,
Chernos, J E
,
Wages, J
,
Bloch, W
,
Mcleod, D R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 70 KB
Your tags:
english, 1999
59
Pregnancy Termination Policies in Community Hospitals
Lebel, R R
,
Lofthouse, G A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1999
60
A multifaceted genetics educational program for nursing faculty
Prows, C A
,
Latta, K K
,
Hetteberg, C
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 134 KB
Your tags:
english, 1999
61
The value of using gestational age by ultrasonography in Down syndrome and neural tube defects screening
Reddy, Bali S
,
Reddy, Subha S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
Your tags:
english, 1999
62
Serum Leptin Concentration and Lipid Profiles in Puerto Rican Bardet-Biedl Syndrome
Santiago-Cornier, A
,
Arias, W
,
Soto, R
,
Acevedo, J
,
Carlo, S
,
Valencia, D
,
Caban, L
,
Frazer, T
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 131 KB
Your tags:
english, 1999
63
De novo unbalanced translocation of chromosomes 3 and 10 and associated phenotype in a twin gestation
Verp, M S
,
De Ruiter, C J
,
Spiro, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 123 KB
Your tags:
english, 1999
64
Trisomy 8 in papillary serous carcinoma of the ovary studied by FISH
Afify, A
,
Samy, M
,
Sun, C-L
,
Mark, H F L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
Your tags:
english, 1999
65
Mosaicism for a small supernumerary chromosome 22 associated with dysmorphic features and early onset dementia
Tantravahi, U
,
Ahuelo, D
,
Patrick-Mackinnon, S J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 117 KB
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english, 1999
66
Characterization of the Hermansky-Pudlak Syndrome in the Puerto Rican population
Maldonado-Valentin, A E
,
Santiago-Borrero, P J
,
González, A
,
Spritz, R A
,
Oh, J
,
Cedilla, C
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 127 KB
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english, 1999
67
mission statement, CMEs and CEUs
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 78 KB
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english, 1999
68
march of dimes/colonel harland sanders award
Childs, Barton
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 31 KB
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english, 1999
69
session listings
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 602 KB
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english, 1999
70
Cholesterol supplementation enhances growth of phallus in Smith-Lemli-Opitz syndrome
Irons, M B
,
Stewart, T L
,
Sadeghi-Nehad, A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
Your tags:
english, 1999
71
Autism associated with elevated glutamine and glycine levels and clinical response to dextromethorphan
Hamid, R
,
McGrew, S
,
Phillips, J A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
Your tags:
english, 1999
72
Assessment of quality of genetic counseling services by study of adverse events
Harris, R
,
Harris, Hilary J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 74 KB
Your tags:
english, 1999
73
A dual FISH assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
Berend, SA
,
Holmes, RK
,
Craigen, WJ
,
Spikes, AS
,
Kashork, CD
,
Wu, JM
,
Daw, SC
,
Scambler, PJ
,
Shaffer, LG
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
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english, 1999
74
A patient with Gorlin-Chaudhry-Moss syndrome and del(9)(q22.1q22.3)
Tsai, C H
,
Roberson, J R
,
Van Dyke, D L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
Your tags:
english, 1999
75
HER-2/neu oncogene amplification in prostate cancer
Mark, H F L
,
Feldman, D
,
Das, S
,
Kye, H
,
Sun, C-L
,
Samy, M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 60 KB
Your tags:
english, 1999
76
Genetic analysis of patients with pancreatitis and a history of alcohol abuse
Monaghan, K G
,
Jackson, C E
,
Feldman, G L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 70 KB
Your tags:
english, 1999
77
Unique Ichthyosis/MR Syndrome with Seizures, Severe Developmental Delay, Failure to Thrive, Mild Dysmorphology and Eye Findings
Benke, P J
,
Lallouz, M
,
Franco, B
,
Hannanian, J
,
Munoz, M
,
Lam, B
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
Your tags:
english, 1999
78
Alpha thalassemia major: counseling for the possibility of long-term survival
Bojanowski, J
,
Singer, T
,
Styles, L
,
Vichinsky, E
,
Foote, D
,
Quirolo, K
Journal:
Genetics in Medicine
Year:
1999
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english
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79
Immune deficiency (IgG2 deficiency), minimal centromeric association and facial dysmorphism
Hajianpour, M J
,
Golkari, H
,
Sayar, S H
,
Farhoodi, A
,
Haiianpour, A K
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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PDF, 125 KB
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80
Familial posterior urethral valves as a cause for prune-belly
Hopkin, R J
,
Walker, M
,
Stanek, J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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PDF, 127 KB
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81
Genetics education of health professionals
Lanham, E V
,
Weiss, J O
,
Kozma, C
,
Benkendorf, J L
,
Wilson, M A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 99 KB
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82
Ritscher-Schinzel cardio-cranio-cerebellar (3C) syndrome: Report of three new cases
Leonardi, M
,
Wilkes, B
,
Pai, G S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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83
VATER association with female hypospadia
Lin, J L
,
Chen, C J
,
Lai, J Y
,
Hwang, M S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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84
Natural history of Trisomy 13 in unselected liveborn patients: Comparison with the S.O.F.T. data
McPherson, E
,
Clemens, M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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PDF, 116 KB
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85
Long deletions of the Williams syndrome region on chromosome 7 result in more severe mental retardation
Morris, Colleen A
,
Mervis, C B
,
Robinson, B F
,
Keating, M T
,
Lu, X
,
Meng, X
,
Spallone, P
,
Dennis, T R
,
Stock, A D
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
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86
22q 13 Deletion Syndrome: A Genetic Basis For Neurobehavioral Disorders?
Prasad, C
,
Chodirker, B N
,
Lee, C
,
Dawson, A K
,
Jocelyn, L J
,
Chudley, A E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 134 KB
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87
Severe amniotic band syndrome with limb body wall complex. Ultrasonographic-clinicopathologic correlations
Roberts, J L
,
Csury, L
,
Schneider, F
,
Cohen, H
,
Anderson, V M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
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88
Typical “soup kid” facies of Albright Hereditary Osteodystrophy in early infancy and natural history of the phenotype through old age
Shapiro, L R
,
Taska, H
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 131 KB
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89
Prenatal diagnosis of Smith-Lemli-Opitz syndrome via an abnormal maternal serum screen
Swing, M B
,
Hirata, G
,
Gibson, K M
,
Steiner, R
,
Burlingame, T
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 131 KB
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90
Chromosome painting for diagnosing a 10;11 translocation in a patient with infantile acute lymphoblastic leukemia
Alter, D
,
Glasser, L
,
Mark, H F L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
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91
Identification of 46,XX/46,XY chimerism in an infant with ambiguous genitalia
McClellan, M W
,
McClellan, J M
,
Ball, K D
,
Williams, T C
,
Johnson, M L
,
Rigdon, D T
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 111 KB
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92
Two patients with mosaic trisomy ring 20. Doing the right test for the wrong reasons
Williams, M S
,
Josephson, K D
,
Edelman, F S
,
Sekhon, G S
,
Scheib-Wixted, S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 117 KB
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93
Mutation analysis of the fragile histidine triad gene transcripts of primary tumors and unaffected tissue using restriction nuclease fingerprinting and sequencing
Kaelbling, M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
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94
A possible centromeric 21/22 translocation as an alternative cause of nondisjunction in trisomy 21
Del Castillo, V
,
Ramos, S
,
Molina, B
,
Frias, S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
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95
Diagnosis of Gaucher disease by a flow cytometric assay
Kim, H J
,
Ha, M J
,
Kang, H W
,
Yang, M S
,
Kim, H S
,
Kim, H C
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
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96
A minimally invasive assay detects BRCA 1 germline mutations
Byrne, T J
,
Reece, M
,
Lane, M
,
Adams, L
,
Cohn, G
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 125 KB
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97
Prenatal diagnosis of a skeletal deformation resulting from leiomyomata uteri
Hudson, S
,
Roberts, J L
,
Clarin, E
,
Anderson, V M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 127 KB
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98
RETROSPECIVE ANALYSIS OF PATIENTS WITH OVERLAPPING FEATURES OF TOWNES-BROCKS SYNDROME AND GOLDENHAR SYNDROME
Keegan, C E
,
Korf, B R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 138 KB
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99
Fryns-Soekerman syndrome: Case report and review
McLeod, D R
,
Farr, C
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 116 KB
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100
Clinical, cytogenetic and epidemiological approaches to the genetic heterogeneity of holoprosencephaly. Buenos Aires, 1988–1997
Perandones, C
,
Haefliger, C
,
Cámpora, L
,
Scheifer, J D
,
Torrado, M
,
Gallego, M
,
Barreiro, C
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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101
Characterization of a novel candidate gene in Xp22.3 with homology to Drosophila ms13
Van den Veyver, I B
,
Prakash, S
,
Franco, B
,
Zoghbi, H Y
Journal:
Genetics in Medicine
Year:
1999
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102
Mosaicism in Lowe syndrome
Nussbaum, R L
,
Orrison, B M
,
Meyers, K E C
,
Caputo, A
,
Lewis, R A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
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103
Prenatal Diagnosis of dup(3q) syndrome
Barrett, S K
,
Kupchik, G S
,
Rosa, D
,
Haberman, S
,
Burgess, T
,
Macera, M J
,
Verma, R S
Journal:
Genetics in Medicine
Year:
1999
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104
A unique X-linked syndrome characterized by congenital deafness, mild dysmorphic features, mid-phalangeal hypoplasia, hernias, and late-onset pancytopenia
Petty, E M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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105
Floorplans
Journal:
Genetics in Medicine
Year:
1999
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1999
106
samuel pruzansky memorial lecture
Willard, Huntington F
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 63 KB
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107
Five years' experience of cholesterol treatment for the Smith-Lemli-Opitz Syndrome (SLOS): What have we learned, where are we going?
Elias, E R
,
Irons, M
,
Tint, G S
,
Salen, S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
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108
Hypotonia and Prader Willi syndrome in the neonatal period
Bérubé, D
,
Gagné, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
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109
A FISH study of trisomies 7 and 8 in prostate cancer
Mark, H F L
,
Das, S
,
Kye, H
,
Sun, C-L
,
Samy, M
,
Feldman, D
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 110 KB
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110
Vanishing twin due to an apparent gnomic imbalance
Verma, R S
,
Macera, M J
,
Bronstein, E S
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 117 KB
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111
Molecular analysis of human Jaggedl gene in an Indian family with Alagille syndrome
Lai, P S
,
Cheah, F S H
,
Liew, M H
,
Aw, M M
,
Ouak, S H
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 128 KB
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112
An epidemiologic assessment of the relationship between the G985A medium chain acyl-coA dehydrogenase deficiency (MCADD) allelic variant and sudden infant death syndrome (SIDS)
Wang, S S
,
Khoury, M J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 73 KB
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113
On hiccuping and yawning: why we do it
Roberts, R M
Journal:
Genetics in Medicine
Year:
1999
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PDF, 114 KB
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1999
114
Prenatal Diagnosis of Asymmetric Fetal Overgrowth: A Diagnostic Dilemma
Vincent, V
,
Seaver, L
,
Sanders, A M
,
Allen, B
,
Dacus, J V
Journal:
Genetics in Medicine
Year:
1999
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PDF, 107 KB
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115
The reason of non-specific background of methodologies for random mutation identification: X-structures formation in purified PCR products solutions
Neschastnova, A A
,
Yakubovskaya, M G
,
Lipatova, Z
,
Popenko, V I
,
Belitsky, G A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 127 KB
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116
Biochemical discrimination of heterozygotes for cystathionine β-synthase (CβS) deficiency
Steen, M T
,
Boddie, A M
,
Langley, S
,
Cotsonis, G
,
Macmahon, W
,
Saxe, D
,
Dembure, P P
,
Kim, C
,
Kruger, W D
,
Elsas, L J
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 63 KB
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1999
117
Fragile X mutation screening among unselected pregnant women seen for genetic counseling: Findings of a pilot study
Finucane, B
,
Speare, V
,
Allitto, B
,
Adelberg, J
,
Schmidt, S
,
Simon, E
,
Blagowidow, N
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 126 KB
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118
Kabuki make up syndrome in a Caribbean black child from Trinidad
Jaquez, M
,
Wu, S
,
Shirazi, E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 138 KB
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119
Heart-hand syndrome II (Tabatznik syndrome): A new case with mild phenotype
Ramos, F J
,
Bueno, I
,
Olivares, J L
,
Bueno, M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 134 KB
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120
Carpal tunnel syndrome: familial autosomal inheritance
Reddy, Bali S
,
Reddy, Subbha S
,
Ha Ryu, Eun
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
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121
Blunt trauma to the gravid abdomen as a cause of cerebral palsy and epilepsy
Roberts, R M
Journal:
Genetics in Medicine
Year:
1999
Language:
english
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PDF, 129 KB
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122
New syndromic association of male pseudohermaphroditism with female external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene(s)
Vilain, E
,
Quigley, E C
,
Aisenberg, J
,
Zhang, Y-H
,
Freidenberg, G
,
Huang, B-L
,
McCabe, E R B
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 123 KB
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123
Assessment of Service Load in Clinical Genetics Practice. Report of a Survey Conducted in the GENES Region
Zinberq, R E
,
Greendale, K
,
Salsberq, E S
,
Rosenthal, R
,
Pass, K A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 68 KB
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124
Carrier screening in Gaucher disease: reproductive decision-making in couples with mixed heritage
Jansen, V
,
Starkman, A
,
Zajac, L
,
Wallerstein, R
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 138 KB
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125
Congenital cardiac myopathy in a baby with an apparently balanced translocation t(7;8)(p21.2;g24.1)
Madahar, C J
,
Jenkins, E
,
Coomaralingam, R
,
Roy, J
,
Yanza, A
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 110 KB
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126
Influence of hcterochromatin on fetal loss: Clinical and counseling aspects
Shklovskaya, T V
,
Kleyman, S M
,
Macera, M J
,
Verma, R S
Journal:
Genetics in Medicine
Year:
1999
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1999
127
The Fragile X syndrome in patients with mental retardation of unknown cause in Mexico
González-del Angel, A
,
Vidal, S
,
Saldatla, Y
,
Castillo, V Del
,
Orozco, L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 128 KB
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128
Prenatal diagnosis of FGFR3 mutations in thanatophoric dysplasia types I and II
Spector, E
,
Hansen-Higa, A
,
Bellus, G
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
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129
Chromosome abnormalities due to maternal translocations not detected with routine amniocentesis
Kukolich, M K
,
Estabrooks, L L
,
Martin, S L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 141 KB
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130
Study of Some Morphological Physiological and Serological Parameters in Twins
Singh, Monica
,
Singh, S P
,
Kaur, Harsurinder
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 82 KB
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131
PCR-based molecular diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite treatment. Potential for quantitative estimation
Velinov, M
,
Zhong, N
,
Brown, W T
,
Jenkins, E
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 129 KB
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132
board and committee meetings
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 39 KB
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133
Prenatal phenotype of 48, XXYY with elevated MSAFP
Carter, S M
,
Levy, P A
,
Puljjaal, V
,
Gross, S J
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 118 KB
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english, 1999
134
Caudal regression and holoprosencephaly in a fetus of a diabetic mother
Einv, R
,
Ferreira, J C
,
Sachs, G S
,
Orda, A
,
Allen, N M
,
Gross, S J
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 110 KB
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1999
135
Preliminary cytogenetic characterization of an AZT-resistant subclone, clone 5, of the human colon tumor cell line, HCT-15
Ahsanuddin, A N
,
Damowski, J W
,
Mark, H F L
Journal:
Genetics in Medicine
Year:
1999
Language:
english
File:
PDF, 114 KB
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english, 1999
136
A rare interstitial deletion (2)(pi l.2pl3) in a child with pericentric inversion (2)(pl l.2g13) of paternal origin
White, B. J.
,
Lacbawan, F. L.
,
Anguiano, A.
,
Rigdon, D
,
Ball, K.
,
Bromage, G.
,
Yang, X. J.
,
DiFazio, M.
,
Levin, S. W.
,
Diagnostics, Quest
,
Capistrano, San Juan
,
H, N I
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 102 KB
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1999
137
Incomplete X-linked congenital stationary night blindness: Characterization of mutations in the CACNAIF gene and an assessment of clinical variability
Boycott, K M
,
Pearcel, W G
,
Bech-Hansen, N T
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 103 KB
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1999
138
A new gene for dyslexia (DYX3) is located on chromosome 2. H.A
Lubs,
,
Raeymaekers, R.
,
Toennessen, F. E.
,
Pedersen, M.
,
Tranebjaerg, L.
,
Fagerheim, T.
Journal:
Genetics in Medicine
Year:
1999
File:
PDF, 111 KB
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1999
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