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Volume 58; Issue 6
Main
Clinical Genetics
Volume 58; Issue 6
Clinical Genetics
Volume 58; Issue 6
1
Ectodermal dysplasias: not only ‘skin’ deep
M Priolo
,
M Silengo
,
M Lerone
,
R Ravazzolo
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2000
2
Factors influencing sib risks for Multiple Sclerosis
AD Sadovnick
,
IML Yee
,
GC Ebers
,
The Canadian Collaborative Study Group
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 65 KB
Your tags:
english, 2000
3
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Ms Peñaherrera
,
IJ Barrett
,
CJ Brown
,
S Langlois
,
S-L Yong
,
S Lewis
,
H Bruyère
,
PN Howard-Peebles
,
DK Kalousek
,
WP Robinson
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2000
4
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria
O Järvinen
,
M Hietala
,
A-M Aalto
,
M Arvio
,
A Uutela
,
P Aula
,
H Kääriäinen
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2000
5
Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β-synthase gene on plasma homocysteine levels
Ö Aras
,
NQ Hanson
,
F Yang
,
MY Tsai
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 80 KB
Your tags:
english, 2000
6
Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic
V Collins
,
J Halliday
,
R Warren
,
R Williamson
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 132 KB
Your tags:
english, 2000
7
Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing
S Yu
,
A Fimmel
,
D Fung
,
RJ Trent
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2000
8
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family
A Mégarbané
,
M Mustapha
,
J Bleik
,
N Waked
,
V Delague
,
J Loiselet
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2000
9
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome
J Peverall
,
E Edkins
,
J Goldblatt
,
A Murch
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2000
10
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
Bba De Vries
,
M Bitner-Glindzicz
,
Sjl Knight
,
J Tyson
,
Kd MacDermot
,
J Flint
,
S Malcolm
,
Rm Winter
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 156 KB
Your tags:
english, 2000
11
Segregation of a supernumerary del(15) marker chromosome in sperm
PD Cotter
,
E Ko
,
SK Larabell
,
AW Rademaker
,
RH Martin
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2000
12
Ventricular septal defect associated with microdeletions of chromosome 22q11.2
H Yamagishi
,
J Maeda
,
M Tokumura
,
S Yoshiba
,
E Takahashi
,
H Fukushima
,
C Yamagishi
,
N Matsuo
,
Y Kojima
Journal:
Clinical Genetics
Year:
2000
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2000
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