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Volume 47; Issue 2
Main
Clinical Genetics
Volume 47; Issue 2
Clinical Genetics
Volume 47; Issue 2
1
Hartwig Cleve
Alexander G. Bearn
,
Eberhard Passarge
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 271 KB
Your tags:
english, 1995
2
Impact of a common mutation of the LDL receptor gene, in French-Canadian patients with familial hypercholesterolemia, on means, variances and correlations among traits of lipid metabolism
Madeleine Roy
,
Charles F. Sing
,
C. Betard
,
Jean Davignon
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 884 KB
Your tags:
english, 1995
3
Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals
V. Gudnason
,
D. Patel
,
X-M. Sun
,
S. Humphries
,
A.K. Soutar
,
B.L. Knight
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 858 KB
Your tags:
english, 1995
4
Retinitis pigmentosa in India: a genetic and segregation analysis
Bibhas Kar
,
Sheila John
,
G. Kumaramanickavel
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 467 KB
Your tags:
english, 1995
5
Congenital cardiac malformations in Adams-Oliver syndrome
Hugo H. Zapata
,
Lisa J. Sletten
,
Mary Ella M. Pierpont
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 958 KB
Your tags:
english, 1995
6
Psychosocial and sexual functioning in women with Turner syndrome
Karen Pavlidis
,
Elizabeth McCauley
,
Virginia P. Sybert
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 587 KB
Your tags:
english, 1995
7
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1
Jean-Christophe Marinoni
,
Roger E. Stevenson
,
James P. Evans
,
Dorrit Geshuri
,
Mary C. Phelan
,
Charles E. Schwartz
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 1995
8
Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings
Lorena Orozco
,
José Luis Lezana
,
María Teresa Villarreal
,
Margarita Chávez
,
Alessandra Carnevale
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 239 KB
Your tags:
english, 1995
9
Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene
Victoria M. Pratt
,
Stephen R. Dlouhy
,
M. E. Hodes
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 264 KB
Your tags:
english, 1995
10
A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene
A. V. Peeters
,
L. F. van Gaal
,
M. J. Kotze
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 180 KB
Your tags:
english, 1995
11
A BamHI polymorphism in the human cytochrome P450 gene, CYP2D6
Y. Morimoto
,
N. Murayama
,
A. Kuwano
,
O. Yoshimura
,
I. Kondo
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 175 KB
Your tags:
english, 1995
12
An informative Hindlll polymorphism associated with the βB1 crystallin gene (CRYBB1) on human chromosome 22
T. J. M. Hulsebos
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 208 KB
Your tags:
english, 1995
13
Familial mental retardation and progressive spasticity
Mårten Kyllerman
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 77 KB
Your tags:
english, 1995
14
Reply
Michael Baraitser
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 77 KB
Your tags:
english, 1995
15
Premature thelarche in Möbius syndrome
Takashi Ichiyama
,
Satoshi Handa
,
Takashi Hayashi
,
Susumu Furukawa
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 451 KB
Your tags:
english, 1995
16
Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G→T mutations
M. De Braekeleer
,
J. Daigneault
,
G. Aubin
,
F. Simard
,
Christian Allard
,
Mary T. Fujiwara
,
Kenneth Morgan
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 154 KB
Your tags:
english, 1995
17
Announcements
Journal:
Clinical Genetics
Year:
1995
Language:
english
File:
PDF, 47 KB
Your tags:
english, 1995
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