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Volume 32; Issue 8
Main
Journal of Medical Genetics
Volume 32; Issue 8
Journal of Medical Genetics
Volume 32; Issue 8
1
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
Van Hemel, J O
,
Schaap, C
,
Van Opstal, D
,
Mulder, M P
,
Niermeijer, M F
,
Meijers, J H
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 434 KB
Your tags:
english, 1995
2
Consanguinity among the Saudi Arabian population.
el-Hazmi, M A
,
al-Swailem, A R
,
Warsy, A S
,
al-Swailem, A M
,
Sulaimani, R
,
al-Meshari, A A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 671 KB
Your tags:
english, 1995
3
Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.
Makita, Y
,
Masuno, M
,
Maizumi, K
,
Tachibana, K
,
Kuroki, Y
,
Kurahashi, H
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 269 KB
Your tags:
english, 1995
4
Pallister-Hall and McKusick-Kaufmann syndromes.
Lurie, I W
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 304 KB
Your tags:
english, 1995
5
Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?
Fryns, J P
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 304 KB
Your tags:
english, 1995
6
Medical genetics: advances in brief: Comparison of women who do and do not have amniocentesis or chorionic villus sampling
Barnicoat, A.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 268 KB
Your tags:
english, 1995
7
The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy.
Bonne, G
,
Carrier, L
,
Schwartz, K
,
Komajda, M
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 584 KB
Your tags:
english, 1995
8
Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.
Meiner, A
,
Wolf, C
,
Carey, N
,
Okitsu, A
,
Johnson, K
,
Shelbourne, P
,
Kunath, B
,
Sauermann, W
,
Thiele, H
,
Kupferling, P
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 920 KB
Your tags:
english, 1995
9
Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.
Wakisaka, A
,
Sasaki, H
,
Takada, A
,
Fukazawa, T
,
Suzuki, Y
,
Hamada, T
,
Iwabuchi, K
,
Tashiro, K
,
Yoshiki, T
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 563 KB
Your tags:
english, 1995
10
Attitudes towards Down's syndrome: follow up of a cohort of 280 cases.
Julian-Reynier, C
,
Aurran, Y
,
Dumaret, A
,
Maron, A
,
Chabal, F
,
Giraud, F
,
Ayme, S
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 597 KB
Your tags:
english, 1995
11
The association of combined alpha and beta fibrinogen genotype on plasma fibrinogen levels in smokers and non-smokers.
Thomas, A E
,
Green, F R
,
Lamlum, H
,
Humphries, S E
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 874 KB
Your tags:
english, 1995
12
Report on MDA workshop on myotonic dystrophy, 10 October 1994, Montreal, Quebec, Canada.
Johnson, K
,
Siciliano, M J
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 842 KB
Your tags:
english, 1995
13
Medical genetics: advances in brief: Health supervision for children with achondroplasia
Clayton-Smith, J.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 148 KB
Your tags:
english, 1995
14
Filippi syndrome: a new case with skeletal abnormalities.
Heron, D
,
Billette de Villemeur, T
,
Munnich, A
,
Lyonnet, S
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 1995
15
Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.
Nevin, N C
,
Thomas, P S
,
Eedy, D J
,
Shepherd, C
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.49 MB
Your tags:
english, 1995
16
Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.
Keppler-Noreuil, K M
,
Carroll, A J
,
Finley, W H
,
Rutledge, S L
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.13 MB
Your tags:
english, 1995
17
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
Manouvrier, S
,
Rotig, A
,
Hannebique, G
,
Gheerbrandt, J D
,
Royer-Legrain, G
,
Munnich, A
,
Parent, M
,
Grunfeld, J P
,
Largilliere, C
,
Lombes, A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 520 KB
Your tags:
english, 1995
18
Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.
Park, V M
,
Bravo, R R
,
Shulman, L P
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.12 MB
Your tags:
english, 1995
19
Neuropsychological characteristics of Huntington's disease carriers: a double blind study.
Rosenberg, N K
,
Sorensen, S A
,
Christensen, A L
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 896 KB
Your tags:
english, 1995
20
Velocardiofacial syndrome: learning difficulties and intervention.
Kok, L L
,
Solman, R T
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 1995
21
Congenital heart disease in spondylothoracic dysostosis: two familial cases.
Simpson, J M
,
Cook, A
,
Fagg, N L
,
MacLachlan, N A
,
Sharland, G K
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 826 KB
Your tags:
english, 1995
22
Medical genetics: advances in brief: A multinstitutional survey of Wiskott-Aldrich syndrome
Clayton-Smith, J.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 281 KB
Your tags:
english, 1995
23
Prototype sequence clues within the Fanconi anaemia group C gene.
Liebetrau, W
,
Buhner, M
,
Hoehn, H
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 547 KB
Your tags:
english, 1995
24
Textbook of Fetal Physiology
Harris, A.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 150 KB
Your tags:
english, 1995
25
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Verloes, A
,
David, A
,
Ngo, L
,
Bottani, A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 2.35 MB
Your tags:
english, 1995
26
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period.
Martorell, L
,
Martinez, J M
,
Carey, N
,
Johnson, K
,
Baiget, M
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 700 KB
Your tags:
english, 1995
27
Congenital anomalies and genetic disorders in families of children with central nervous system tumours.
Jones, S M
,
Phillips, P C
,
Molloy, P T
,
Lange, B J
,
Needle, M N
,
Biegel, J A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.29 MB
Your tags:
english, 1995
28
Medical genetics: advances in brief: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype
Barber, J. C K
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 148 KB
Your tags:
english, 1995
29
Apolipoprotein E epsilon 4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote and heterozygote carriers.
St Clair, D
,
Rennie, M
,
Slorach, E
,
Norrman, J
,
Yates, C
,
Carothers, A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 591 KB
Your tags:
english, 1995
30
Assessing Genetic Risks: Implications for Health and Social Policy
Anionwu, E. N
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 305 KB
Your tags:
english, 1995
31
Medical genetics: advances in brief: Mutation in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
Flinter, F.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 281 KB
Your tags:
english, 1995
32
Genetics in Neurology
Macmillan, J.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 444 KB
Your tags:
english, 1995
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