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Volume 76; Issue 5
Main
Clinical Genetics
Volume 76; Issue 5
Clinical Genetics
Volume 76; Issue 5
1
Analysis of the CTNS gene in 32 cystinosis patients from Spain
J Macías-Vidal
,
M Rodés
,
JM Hernández-Pérez
,
MA Vilaseca
,
MJ Coll
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 449 KB
Your tags:
english, 2009
2
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients
GM Repetto
,
ML Guzmán
,
A Puga
,
JF Calderón
,
CP Astete
,
M Aracena
,
M Arriaza
,
T Aravena
,
P Sanz
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 467 KB
Your tags:
english, 2009
3
Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
CM Roifman
,
D Chitayat
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 560 KB
Your tags:
english, 2009
4
Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer
M Marshall
,
S Solomon
,
D Lawrence Wickerham
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 477 KB
Your tags:
english, 2009
5
Novel B3GALTL mutation in Peters-plus Syndrome
J Dassie-Ajdid
,
A Causse
,
A Poidvin
,
M Granier
,
J Kaplan
,
L Burglen
,
D Doummar
,
P Teisseire
,
A Vigouroux
,
F Malecaze
,
P Calvas
,
N Chassaing
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 510 KB
Your tags:
english, 2009
6
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas
S Nasti
,
L Pastorino
,
W Bruno
,
S Gargiulo
,
L Battistuzzi
,
E Zavattaro
,
G Leigheb
,
V De Francesco
,
A Tulli
,
F Mari
,
G Bianchi Scarrà
,
P Ghiorzo
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 662 KB
Your tags:
english, 2009
7
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome
Kai Brakensiek
,
Christine Fegbeutel
,
Madeleine Mälzer
,
Martin Strüber
,
Hans Kreipe
,
Manfred Stuhrmann
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 443 KB
Your tags:
english, 2009
8
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever
M Bonyadi
,
M Esmaeili
,
H Jalali
,
MH Somi
,
A Ghaffari
,
M Rafeey
,
K Sakha
,
N Lotfalizadeh
,
A Pourhassan
,
M Khoshbaten
,
MR Ardalan
,
N Laghaeian
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 456 KB
Your tags:
english, 2009
9
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
DZ Loesch
,
MS Khaniani
,
HR Slater
,
JP Rubio
,
QM Bui
,
K Kotschet
,
W D’Souza
,
A Venn
,
P Kalitsis
,
AKH Choo
,
T Burgess
,
L Johnson
,
A Evans
,
M Horne
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 490 KB
Your tags:
english, 2009
10
Chromosome imbalances in syndromic hearing loss
ALPM Catelani
,
ACV Krepischi
,
CA Kim
,
F Kok
,
PA Otto
,
MTBM Auricchio
,
JF Mazzeu
,
DT Uehara
,
SS Costa
,
J Knijnenburg
,
A Tabith Jr
,
AM Vianna-Morgante
,
RC Mingroni-Netto
,
C Rosenberg
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 639 KB
Your tags:
english, 2009
11
The contribution of founder mutations to early-onset breast cancer in French-Canadian women
P Ghadirian
,
A Robidoux
,
P Zhang
,
R Royer
,
M Akbari
,
S Zhang
,
E Fafard
,
M Costa
,
G Martin
,
C Potvin
,
E Patocskai
,
N Larouche
,
R Younan
,
E Nassif
,
S Giroux
,
SA Narod
,
F Rousseau
,
WD Foulkes
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 465 KB
Your tags:
english, 2009
12
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
M Faiyaz-Ul-Haque
,
B Bin-Abbas
,
A Al-Abdullatif
,
H Abdullah Abalkhail
,
M Toulimat
,
S Al-Gazlan
,
AM Almutawa
,
A Al-Sagheir
,
I Peltekova
,
F Al-Dayel
,
SHE Zaidi
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 643 KB
Your tags:
english, 2009
13
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians
G Zaidi
,
RP Sahu
,
L Zhang
,
G George
,
N Bhavani
,
N Shah
,
V Bhatia
,
A Bhansali
,
G Jevalikar
,
RV Jayakumar
,
GS Eisenbarth
,
E Bhatia
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 594 KB
Your tags:
english, 2009
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