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Volume 39; Issue 10
Main
Journal of Medical Genetics
Volume 39; Issue 10
Journal of Medical Genetics
Volume 39; Issue 10
1
SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation
Cascon, A
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2002
2
Cytogenetic analysis of spermatozoa from males aged between 47 and 71 years
Rives, N
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 145 KB
Your tags:
english, 2002
3
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1
Thauvin-Robinet, C
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 471 KB
Your tags:
english, 2002
4
Fragile X Syndrome - Diagnosis, Treatment and Research: Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. pound65.50 HB, pound31.00 PB. Baltimore: The Johns Hopkins University Press. 2002. ISBN 0-8018-6844-0.
Tolmie, J.
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 139 KB
Your tags:
english, 2002
5
Education improves general practitioner (GP) management of familial breast/ovarian cancer: findings from a cluster randomised controlled trial
Watson, E
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 198 KB
Your tags:
english, 2002
6
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
Flanagan, S F
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 308 KB
Your tags:
english, 2002
7
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
Schindler, S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 205 KB
Your tags:
english, 2002
8
Streptococcal infection distinguishes different types of psoriasis
Weisenseel, P
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 131 KB
Your tags:
english, 2002
9
Molecular screening for Smith-Magenis syndrome among patients with mental retardation of unknown cause
Struthers, J L
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 462 KB
Your tags:
english, 2002
10
Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer
Raevaara, T E
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 176 KB
Your tags:
english, 2002
11
Coffin-Lowry syndrome: clinical and molecular features
Hanauer, A
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 438 KB
Your tags:
english, 2002
12
Oxford Medical Databases: London Dysmorphology Database Version 3.0. London Neurogenetics Database Version 3.0. Dysmorphology Photo Library on CD-ROM Version 3.0: R M Winter, M Baraitser. (CD, pound1595.00.) Oxford: Oxford University Press 2001. ISBN 0198510780.
Suri, M.
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 152 KB
Your tags:
english, 2002
13
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly
Andries, S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2002
14
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience
Charron, P
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 317 KB
Your tags:
english, 2002
15
Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
Kotzot, D
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 158 KB
Your tags:
english, 2002
16
Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene
Palenzuela, L
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2002
17
A rare case of a de novo dup(19q) associated with a mild phenotype
Qorri, M
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2002
18
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
Roberts, E
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2002
19
A novel aberrant splice site mutation in the APC gene
Charames, G S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 281 KB
Your tags:
english, 2002
20
Variant of endothelial nitric oxide synthase gene determines severity of atherosclerosis
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2002
21
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States
Kurzawski, G
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 224 KB
Your tags:
english, 2002
22
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa
Paloma, E
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 286 KB
Your tags:
english, 2002
23
8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?
Tsai, C-H
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 208 KB
Your tags:
english, 2002
24
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance
Martin, C L
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 218 KB
Your tags:
english, 2002
25
Constitutional alterations of the ATM gene in early onset sporadic breast cancer
Maillet, P
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 171 KB
Your tags:
english, 2002
26
Myotonic Dystrophy: 3rd ed. Major Problems in Neurology Series. Peter S Harper. (pound55.00.) London: Harcourt. 2001. ISBN 0 7020 21520
Morrison, K. E
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 152 KB
Your tags:
english, 2002
27
A novel atypical 22q11.2 distal deletion in father and son
Garcia-Minaur, S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 332 KB
Your tags:
english, 2002
28
The Century of Mendelism: Editors Robert A Peel, John Timson. London: The Galton Institute. 2000. ISBN 0 950 40666 X.
McKusick, V. A
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 152 KB
Your tags:
english, 2002
29
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
Van Maldergem, L
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 1.07 MB
Your tags:
english, 2002
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