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Volume 76; Issue 6
Main
Clinical Genetics
Volume 76; Issue 6
Clinical Genetics
Volume 76; Issue 6
1
Phenotype and genotype in females with POU3F4 mutations
S Marlin
,
MP Moizard
,
A David
,
N Chaissang
,
M Raynaud
,
L Jonard
,
D Feldmann
,
N Loundon
,
F Denoyelle
,
A Toutain
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 608 KB
Your tags:
english, 2009
2
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1
AM Nyström
,
S Ekvall
,
J Allanson
,
C Edeby
,
M Elinder
,
G Holmström
,
ML Bondeson
,
G Annerén
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 733 KB
Your tags:
english, 2009
3
Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population
S Lévesque
,
C Dombrowski
,
M-L Morel
,
R Rehel
,
J-S Côté
,
J Bussières
,
K Morgan
,
F Rousseau
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 568 KB
Your tags:
english, 2009
4
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2
M-P López-Garrido
,
E Campos-Mollo
,
M-Á Harto
,
J Escribano
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 585 KB
Your tags:
english, 2009
5
A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)
M Faiyaz-Ul-Haque
,
A Al-Jefri
,
HA Abalkhail
,
M Toulimat
,
MA Al-Muallimi
,
MS Pulicat
,
A Gaafar
,
AA Alaiya
,
F Al-Dayel
,
I Peltekova
,
SHE Zaidi
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 513 KB
Your tags:
english, 2009
6
General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care
D McCahon
,
R Holder
,
A Metcalfe
,
S Clifford
,
P Gill
,
T Cole
,
HV Sleightholme
,
S Wilson
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 516 KB
Your tags:
english, 2009
7
Novel PORCN mutations in focal dermal hypoplasia
G Froyen
,
K Govaerts
,
H Van Esch
,
J Verbeeck
,
M-L Tuomi
,
H Heikkilä
,
S Torniainen
,
K Devriendt
,
J-P Fryns
,
P Marynen
,
I Järvelä
,
S Ala-Mello
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 808 KB
Your tags:
english, 2009
8
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility
N Sambuughin
,
J Capacchione
,
A Blokhin
,
M Bayarsaikhan
,
S Bina
,
S Muldoon
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 482 KB
Your tags:
english, 2009
9
CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing
MR Moya-Quiles
,
P Mondéjar-López
,
MD Pastor-Vivero
,
I González-Gallego
,
MJ Juan-Fita
,
JM Egea-Mellado
,
P Carbonell
,
T Casals
,
A Fernández-Sánchez
,
M Sánchez-Solís
,
G Glover
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 467 KB
Your tags:
english, 2009
10
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene
Renato Borgatti
,
Susan Marelli
,
Laura Bernardini
,
Antonio Novelli
,
Anna Cavallini
,
Alessandra Tonelli
,
Maria Teresa Bassi
,
Bruno Dallapiccola
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 709 KB
Your tags:
english, 2009
11
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia
EL Silveira
,
RH Elnecave
,
EP Dos Santos
,
V Moura
,
EM Pinto
,
I Van Der Linden Nader
,
BB Mendonca
,
TASS Bachega
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 529 KB
Your tags:
english, 2009
12
Sex chromosome sequencing: X-citing findings in mental retardation
RA Kumar
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 489 KB
Your tags:
english, 2009
13
Non-coding regulatory genetics of limb malformations
RA Kumar
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 482 KB
Your tags:
english, 2009
14
STIL on my small brain: a new gene for microcephaly
RA Kumar
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 530 KB
Your tags:
english, 2009
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