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Volume 66; Issue 6
Main
Clinical Genetics
Volume 66; Issue 6
Clinical Genetics
Volume 66; Issue 6
1
Cascade genetic screening for familial hypercholesterolemia
TP Leren
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2004
2
Microarray-based comparative genomic hybridization and its applications in human genetics
AE Oostlander
,
GA Meijer
,
B Ylstra
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 579 KB
Your tags:
english, 2004
3
Genetic counseling for women with breast cancer: the importance of evaluating the spouse
TM Allweis
,
M Sagi
,
T Peretz
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 59 KB
Your tags:
english, 2004
4
Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer
B Meiser
,
V Collins
,
R Warren
,
C Gaff
,
DJB St John
,
M-A Young
,
K Harrop
,
J Brown
,
J Halliday
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2004
5
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia
K Brusgaard
,
AD Kjeldsen
,
L Poulsen
,
H Moss
,
P Vase
,
K Rasmussen
,
TA Kruse
,
M Hørder
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 107 KB
Your tags:
english, 2004
6
Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) – report of a second family
M Tischkowitz
,
F Goodman
,
M Koliou
,
D Webster
,
P Edery
,
A Jones
,
LC Wilson
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 463 KB
Your tags:
english, 2004
7
DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
E Ciara
,
MJM Nowaczyk
,
M Witsch-Baumgartner
,
E Malunowicz
,
E Popowska
,
A Jezela-Stanek
,
M Piotrowicz
,
JS Waye
,
G Utermann
,
M Krajewska-Walasek
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 103 KB
Your tags:
english, 2004
8
Health motivation and emotional vigilance in genetic testing for prostate cancer risk
Y Li
,
DJ Doukas
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 111 KB
Your tags:
english, 2004
9
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability
E Aller
,
T Jaijo
,
S Oltra
,
J Alió
,
F Galán
,
C Nájera
,
M Beneyto
,
JM Millán
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2004
10
It's only teeth – limits to genetic testing? A response to Aldred, Crawford, Savarirayan, and Savulescu.
P Boddington
,
A Clarke
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 59 KB
Your tags:
english, 2004
11
‘It's (not) only teeth’
PJM Crawford
,
MJ Aldred
,
R Savarirayan
,
J Savulescu
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2004
12
Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease
A Shatunov
,
EA Fridman
,
FI Pagan
,
J Leib
,
A Singleton
,
M Hallett
,
LG Goldfarb
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 114 KB
Your tags:
english, 2004
13
Autism in Angelman syndrome: implications for autism research
SU Peters
,
AL Beaudet
,
N Madduri
,
CA Bacino
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 106 KB
Your tags:
english, 2004
14
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype
AE Shrimpton
,
BR Braddock
,
LL Thomson
,
CK Stein
,
JJ Hoo
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 2004
15
Chondrodysplasia punctata in siblings and maternal lupus erythematosus
K Kozlowski
,
D Basel
,
P Beighton
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2004
16
Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma
K Abu-Amero
,
M Zou
,
Y Shi
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 147 KB
Your tags:
english, 2004
17
PMS2 mutations in HNPCC
BE Hayward
,
M De Vos
,
E Sheridan
,
DT Bonthron
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 67 KB
Your tags:
english, 2004
18
Response to De Vos et al.
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2004
19
Allelic heterogeneity of Crigler–Najjar type I syndrome: a study of 24 cases
FM Petit
,
V Gajdos
,
J Francoual
,
L Capel
,
F Parisot
,
C Poüs
,
P Labrune
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 64 KB
Your tags:
english, 2004
20
Author index
Journal:
Clinical Genetics
Year:
2004
File:
PDF, 41 KB
Your tags:
2004
21
Erratum
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 37 KB
Your tags:
english, 2004
22
Subject index
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 41 KB
Your tags:
english, 2004
23
Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations
IJ Lee
,
SH Hwang
,
BH Jeon
,
SM Song
,
JS Kim
,
KH Paik
,
EK Kwon
,
D-K Jin
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 63 KB
Your tags:
english, 2004
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