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Volume 60; Issue 6
Main
Clinical Genetics
Volume 60; Issue 6
Clinical Genetics
Volume 60; Issue 6
1
The fragile X gene and its function
BA Oostra
,
P Chiurazzi
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 11.02 MB
Your tags:
english, 2001
2
When body segmentation goes wrong
O Pourquié
,
K Kusumi
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 14.86 MB
Your tags:
english, 2001
3
History of genetics through philately – deafness
SM Nikkel
,
AE Chudley
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 29.00 MB
Your tags:
english, 2001
4
A family with a grand-maternally derived interstitial duplication of proximal 15q
FZ Boyar
,
MM Whitney
,
AC Lossie
,
BA Gray
,
KL Keller
,
HJ Stalker
,
RT Zori
,
G Geffken
,
J Mutch
,
PJ Edge
,
KS Voeller
,
CA Williams
,
DJ Driscoll
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 3.62 MB
Your tags:
english, 2001
5
Distribution of α1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis
I Blanco
,
EF Bustillo
,
MC Rodriguez
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 6.05 MB
Your tags:
english, 2001
6
To test or not to test: an ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington's disorder
AN Lindblad
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 62 KB
Your tags:
english, 2001
7
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome
T Takahashi
,
I Takahashi
,
M Komatsu
,
Y Sawaishi
,
K Higashi
,
G Nishimura
,
H Saito
,
G Takada
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 551 KB
Your tags:
english, 2001
8
Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients
İ Barış
,
MO Kılınç
,
A Tolun
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2001
9
Familial Down syndrome: evidence supporting cytoplasmic inheritance
S Arbuzova
,
H Cuckle
,
R Mueller
,
I Sehmi
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 154 KB
Your tags:
english, 2001
10
A logistic regression model for measuring gene–longevity associations
Q Tan
,
AI Yashin
,
G De Benedictis
,
F Cintolesi
,
G Rose
,
M Bonafe
,
C Franceschi
,
W Vach
,
JW Vaupel
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 116 KB
Your tags:
english, 2001
11
Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families
O Oszurek
,
B Gorski
,
J Gronwald
,
Z Prosolow
,
K Uglanica
,
A Murinow
,
I Bobko
,
O Downar
,
M Zlobicz
,
D Norik
,
T Byrski
,
A Jakubowska
,
J Lubinski
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 46 KB
Your tags:
english, 2001
12
Pyruvate kinase deficiency: prevalence of the 1456C→T mutation in the Portuguese population
L Manco
,
A Abade
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 51 KB
Your tags:
english, 2001
13
Vietnamese sisters with Grebe syndrome on a TV program in Japan
Satoshi Ishikiriyama
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 1.88 MB
Your tags:
english, 2001
14
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract
AV Polyakov
,
IA Shagina
,
OV Khlebnikova
,
OV Evgrafov
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 2001
15
A systematic search for single nucleotide polymorphisms (SNPs) in the insulin receptor gene: association of an SNP with hyperlipidemia in Japanese type 2 diabetic subjects
H Osawa
,
M Ochi
,
T Nishimiya
,
H Onuma
,
K Nakamaru
,
A Murakami
,
K Kato
,
I Shimizu
,
Y Fujii
,
J Ohashi
,
H Makino
Journal:
Clinical Genetics
Year:
2001
Language:
english
File:
PDF, 53 KB
Your tags:
english, 2001
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