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2 research outputs found
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
Author
A Pandya
A Pfenniger
+22 more
A Wonkam
Ambroise Wonkam
AY Jan
BA Skinner
Collet Dandara
EA de Zwart-Storm
EJ Barker
G Richard
G Richard
Geneviève Bengono Toure
I Todt
J Mazereeuw-Hautier
Jason Bosch
Jean Jacques N Noubiap
L Jonard
L Maintz
RI Kabahuma
S Iossa
T Lazic
WH Evans
WX Zong
XZ Liu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)
Author
A Ohtsuka
A Pandya
+119 more
A Pollak
A Sirmaci
Adyum M. Rafailov
AF Roux
Aisen V. Solovyev
Alexander A. Bondar
Anatoliy N. Alekseev
Andrey A. Kozhevnikov
AO Lasisi
AR Janecke
B Davarnia
C Carranza
C Hаmelmann
C Lazăr
C Paz-y-Miño
C Simpson
CA Oliveira
CG Meyer
CС Morton
D Vuckovic
D Wattanasirichaigoon
D Yan
DK Chan
DP Kelsell
DP Popova
E Gallant
EA Bliznets
Elena V. Kirillina
Elvira E. Fedotova
Elza K. Khusnutdinova
F Cordeiro-Silva Mde
F Denoyelle
FB Piel
Fedor M. Teryutin
G Minárik
G Siem
GE Green
Georgii P. Romanov
H Najmabadi
H Shahin
HH Dahl
HJ Park
I Sansović
Igor V. Morozov
J Bosch
J Shan
JE Common
K Frei
K Grønskov
K Tsukada
K Tsukada
L Cifuentes
L Trotta
L Van Laer
L Zelante
Lena M. Vasilyevа
Leonid A. Klarov
Lilya U. Dzhemileva
LP Gravina
LU Dzhemileva
M Amorini
M de la Luz Arenas-Sordo
M RamShankar
M Tekin
M Tekin
MH Al-Qahtani
Mikhail I. Tomsky
MJ Bonyadi
ML Tamayo
MR Lalaiants
N Bazazzadegan
N Danilenko
NA Barashkov
NA Barashkov
NA Barashkov
Natalya A. Solovyevа
Nikolay A. Barashkov
Nikolay N. Sazonov
NM Gasmelseed
Nyurgun N. Gotovtsev
O Abidi
O Posukh
O Šterna
Oksana G. Sidorova
Olga L. Posukh
P D'Adamo
P Dai
P Homøe
P Kelley
P Seeman
P Seeman
PD Stenson
PI Carlsson
R Rabionet
R Teek
RI Kabahuma
RL Snoeckx
RL Snoeckx
RS Mani
S Abe
S Kupka
SA Zainal
Sardana A. Fedorova
Sardana K. Kononova
SY Kim
Sylvie Mazoyer
T Antoniadi
T Chen
T Kudo
T Löppönen
T Tóth
TD Matos
V Dalamón
Vera G. Pshennikova
X Estivill
XZ Liu
Y Bajaj
YK Man
Z Riahi
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
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