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Volume 76; Issue 3
Main
Clinical Genetics
Volume 76; Issue 3
Clinical Genetics
Volume 76; Issue 3
1
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation
R Slim
,
R Bagga
,
W Chebaro
,
R Srinivasan
,
N Agarwal
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 472 KB
Your tags:
english, 2009
2
Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis
JE Yu
,
S-Y Jeong
,
J-A Yang
,
MS Park
,
HJ Kim
,
SH Yoon
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 527 KB
Your tags:
english, 2009
3
Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
C Surace
,
S Piazzolla
,
P Sirleto
,
MC Digilio
,
MC Roberti
,
A Lombardo
,
G D'Elia
,
AC Tomaiuolo
,
S Petrocchi
,
R Capolino
,
M El Hachem
,
D Claps Sepulveda
,
A Sgura
,
A Angioni
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 724 KB
Your tags:
english, 2009
4
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation
J Hoyer
,
C Kraus
,
G Hammersen
,
J-P Geppert
,
A Rauch
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 712 KB
Your tags:
english, 2009
5
DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15
AM Waryah
,
A Rehman
,
ZM Ahmed
,
Z-H Bashir
,
SY Khan
,
AU Zafar
,
S Riazuddin
,
TB Friedman
,
S Riazuddin
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 633 KB
Your tags:
english, 2009
6
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis
CD Fetterman
,
F Mirzayans
,
MA Walter
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 569 KB
Your tags:
english, 2009
7
Polyalamine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly
M Wajid
,
Y Ishii
,
M Kurban
,
MB Dua-Awereh
,
Y Shimomura
,
AM Christiano
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 724 KB
Your tags:
english, 2009
8
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
V Klaus
,
T Vermeulen
,
B Minassian
,
N Israelian
,
K Engel
,
AM Lund
,
K Roebrock
,
E Christensen
,
J Häberle
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 675 KB
Your tags:
english, 2009
9
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas
B Filipe
,
C Baltazar
,
C Albuquerque
,
S Fragoso
,
P Lage
,
I Vitoriano
,
S Mão de Ferro
,
I Claro
,
P Rodrigues
,
P Fidalgo
,
P Chaves
,
M Cravo
,
C Nobre Leitão
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 508 KB
Your tags:
english, 2009
10
Genetic gains on the obesity and metabolic disease fronts
SM Clee
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 495 KB
Your tags:
english, 2009
11
CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis
H-S Chiang
,
J-F Lu
,
C-H Liu
,
Y-N Wu
,
C-C Wu
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 465 KB
Your tags:
english, 2009
12
Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing
M Via
,
E Ziv
,
EG Burchard
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 752 KB
Your tags:
english, 2009
13
Kåre Berg (1932–2009)
Lars Retterstøl
,
Anne-Lise Børresen-Dale
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 541 KB
Your tags:
english, 2009
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