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Volume 65; Issue 5
Main
Clinical Genetics
Volume 65; Issue 5
Clinical Genetics
Volume 65; Issue 5
1
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness
D Shears
,
H Conlon
,
T Murakami
,
K Fukai
,
R Alles
,
R Trembath
,
M Bitner-Glindzicz
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 1.94 MB
Your tags:
english, 2004
2
Association between −250G/A polymorphism of the hepatic lipase gene promoter and coronary artery disease and HDL-C levels in a Southern Brazilian population
FM De Andrade
,
FR Silveira
,
M Arsand
,
ALS Antunes
,
MR Torres
,
AJ Zago
,
SM Callegari-Jaques
,
MH Hutz
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 117 KB
Your tags:
english, 2004
3
Deletion of the TWIST gene in a large five-generation family
IM De Heer
,
AJM Hoogeboom
,
HJ Eussen
,
JM Vaandrager
,
A De Klein
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 437 KB
Your tags:
english, 2004
4
A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization
DA Koolen
,
LELM Vissers
,
W Nillesen
,
D Smeets
,
CMA Van Ravenswaaij
,
EA Sistermans
,
JA Veltman
,
BDA De Vries
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 1.10 MB
Your tags:
english, 2004
5
Getting at the heart of coronary disease
SM Clee
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 96 KB
Your tags:
english, 2004
6
Genomics goes to the dogs
SM Clee
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 96 KB
Your tags:
english, 2004
7
Texas physicians' perceptions of genomic medicine as an innovation
SG Suther
,
P Goodson
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 125 KB
Your tags:
english, 2004
8
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
MB Delatycki
,
KJ Allen
,
P Gow
,
J MacFarlane
,
C Radomski
,
J Thompson
,
MR Hayden
,
YP Goldberg
,
ME Samuels
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 509 KB
Your tags:
english, 2004
9
Prenatal diagnosis of de novo X;autosome translocations
L Abrams
,
PD Cotter
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2004
10
Erratum
Journal:
Clinical Genetics
Year:
2004
File:
PDF, 36 KB
Your tags:
2004
11
A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
SJ Hassed
,
D Hopcus-Niccum
,
L Zhang
,
S Li
,
JJ Mulvihill
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 2.30 MB
Your tags:
english, 2004
12
Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma
P Hudler
,
K Voulk
,
M Liovic
,
S Repse
,
R Juvan
,
R Komel
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 151 KB
Your tags:
english, 2004
13
Variations in high-density lipoprotein cholesterol in relation to physical activity and Taq 1B polymorphism of the cholesteryl ester transfer protein gene
M Mukherjee
,
KR Shetty
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 111 KB
Your tags:
english, 2004
14
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
TP Leren
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 87 KB
Your tags:
english, 2004
15
Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis
AE Nisselle
,
MB Delatycki
,
V Collins
,
S Metcalfe
,
MA Aitken
,
D Du Sart
,
J Halliday
,
I Macciocca
,
A Wakefield
,
V Hill
,
A Gason
,
B Warner
,
V Calabro
,
R Williamson
,
KJ Allen
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 152 KB
Your tags:
english, 2004
16
Genetic landmarks through philately – autism spectrum disorders: a genetic update : Section Editor: Albert E. Chudley, e-mail: achudley@hsc.mb.ca
AE Chudley
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 2.43 MB
Your tags:
english, 2004
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