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Volume 65; Issue 4
Main
Clinical Genetics
Volume 65; Issue 4
Clinical Genetics
Volume 65; Issue 4
1
Mutational spectrum in Usher syndrome type II
XM Ouyang
,
D Yam
,
JF Hejtmancik
,
SG Jacobson
,
AR Li
,
LL Du
,
S Angeli
,
M Kaiser
,
T Balkany
,
XZ Liu
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 107 KB
Your tags:
english, 2004
2
Reproductive epigenetics : Section Editors: Roderick R. McInnes, e-mail: mcinnes@sickkids.on.ca Jacques Michaud, e-mail: jmichaud@justine.umontreal.ca
TLJ Kelly
,
JM Trasler
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 499 KB
Your tags:
english, 2004
3
Erratum
Journal:
Clinical Genetics
Year:
2004
File:
PDF, 30 KB
Your tags:
2004
4
The hunt for BRCA2 interactors scores a big hit: EMSY as a prognostic tool for sporadic breast cancer
EJ Slow
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 890 KB
Your tags:
english, 2004
5
From families to genes and back: can a hemochromatosis gene help treat the anemia of chronic disease?
EJ Slow
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 890 KB
Your tags:
english, 2004
6
Pyruvate kinase deficiency: providing protection from Plasmodium parasitism
BA Coburn
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 890 KB
Your tags:
english, 2004
7
Genetic counseling of medullary breast cancer patients
C Kroupis
,
E Lianidou
,
N Goutas
,
S Vasilaros
,
D Yannoukakos
,
M B Petersen
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 60 KB
Your tags:
english, 2004
8
Terminal deletion of the long arm of chromosome 10
S Scigliano
,
MJ Grégoire
,
M Schmitt
,
PH Jonveaux
,
B LeHeup
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 761 KB
Your tags:
english, 2004
9
The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy
C Whybra
,
C Kampmann
,
F Krummenauer
,
M Ries
,
E Mengel
,
E Miebach
,
F Baehner
,
K Kim
,
M Bajbouj
,
A Schwarting
,
A Gal
,
M Beck
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 122 KB
Your tags:
english, 2004
10
Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis
W Kievit
,
JHFM De Bruin
,
EMM Adang
,
MJL Ligtenberg
,
FM Nagengast
,
JHJM Van Krieken
,
N Hoogerbrugge
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 114 KB
Your tags:
english, 2004
11
Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population
MJ Kotze
,
JNP De Villiers
,
CSH Bouwens
,
L Warnich
,
MG Zaahl
,
S Van Der Merwe
,
C Oberkanins
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 171 KB
Your tags:
english, 2004
12
Detection of RAG mutations and prenatal diagnosis in families presenting with either T–B– severe combined immunodeficiency or Omenn's syndrome
U Tabori
,
Z Mark
,
N Amariglio
,
A Etzioni
,
H Golan
,
B Biloray
,
A Toren
,
G Rechavi
,
I Dalal
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2004
13
Utilization of prenatal genetic testing by Israeli Moslem women: a national survey
C Sher
,
O Romano-Zelekha
,
Ms Green
,
T Shohat
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 97 KB
Your tags:
english, 2004
14
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome
J Karpf
,
J Turk
,
P Howlin
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 85 KB
Your tags:
english, 2004
15
Novel CFTR mutations in black cystic fibrosis patients
MN Feuillet-Fieux
,
M Ferrec
,
N Gigarel
,
L Thuillier
,
I Sermet
,
J Steffann
,
G Lenoir
,
JP Bonnefont
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2004
16
Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients
S Sripriya
,
S Uthra
,
R Sangeetha
,
RJ George
,
A Hemamalini
,
PG Paul
,
J Amali
,
L Vijaya
,
G Kumaramanickavel
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 87 KB
Your tags:
english, 2004
17
The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects
T Fitzgerald
,
S Duva
,
H Ostrer
,
K Pass
,
C Oddoux
,
R Ruben
,
M Caggana
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 679 KB
Your tags:
english, 2004
18
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
DR Langbehn
,
RR Brinkman
,
D Falush
,
JS Paulsen
,
MR Hayden
,
on behalf of an International Huntington's Disease Collaborative Group
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 268 KB
Your tags:
english, 2004
19
Announcement
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2004
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