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4 research outputs found
Homozygous variant in <em>ARL3</em> causes autosomal recessive cone rod dystrophy
Author
Ahmed ZM
Hufnagel RB
+11 more
Kahn RA
Narsani AK
Riazuddin S
Sayer JA
Schiavon CR
Sheikh SA
Sisk RA
Steel DH
Usmani MA
Waryah AM
Waryah YM
Publication venue
Association for Research in Vision and Ophthalmology Inc.
Publication date
01/01/2019
Field of study
No full text
Newcastle University E-Prints
Haplotype analysis of DFNB8/10 locus reveals contribution of TMPRSS3 mutations in Pakistani deaf population
Author
A Berry
A Dorum
+35 more
A Hishinuma
A Veske
AM Waryah
B Bonne-Tamir
BK Cornes
C Campbell
C Petit
ER Wilcox
G Ali
GJ Meerman te
GM Lathrop
GW Birrell
HS Scott
J Ahmad
J Grimberg
L Bergstrom
LJ Fang
M Elbracht
M Guipponi
M Telatar
M Wattenhofer
ML Marazita
NE Morton
PY Chung
RA Ali
S Anwar
S Masmoudi
S Riazuddin
SY Khan
SY Khan
T Ben-Yosef
V Kalatzis
VA McKusick
XM Ouyang
ZM Ahmed
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
Author
A Pollak
AK Huebner
+46 more
AM Waryah
AP Vore
B Arellano
B-q Huang
Bang-Qing Huang
BY Choi
C Schild
C Wallis
CC Morton
CW Cremers
CW Cremers
Dong-Yang Kang
FP Cremers
G Bademci
H Hagiwara
H Moteki
H Saeed
HK Lee
HK Lee
J Li
Jian-Dong Zhao
Jing-Ning Mao
JM Mathis
KM Stankovic
L Sennaroglu
L Zong
M Bitner-Glindzicz
M Schraders
ML Marazita
NE Morton
PD Phelps
Pu Dai
QJ Wang
RA Friedman
S Marlin
S Rost
Sha-Sha Huang
WE Nance
WX Gong
X Liu
Xin Zhang
Xue Gao
YJ de Kok
YJ de Kok
YJ de Kok
Yu Su
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Author
A Estrada-Cuzcano
Abid Sohail Taj
+62 more
AM Waryah
Arjan P M de Brouwer
Asbjørn Holmgren
Attia Razzaq
C Mele
CG Woods
Daniel Lôpo Polla
Doriana Misceo
EF Pettersen
Eirik Frengen
EV Davydov
FA Santoni
Federico A Santoni
H Deng
H Inoue
H Li
H Najmabadi
Hans van Bokhoven
IA Adzhubei
J de Ligt
J Zlotogora
Jamshed Khan
Jawad Ahmed
JM Schwarz
Justyna Iwaszkiewicz
K Wang
K Ye
KD Pruitt
L Mosyak
L Zelinger
LA McInnes
LE Vissers
M Lek
MH Willemsen
Michel Guipponi
Muhammad Ansar
Muhammad Tahir Sarwar
Muhammad Zaman Assir
Mureed Hussain
Naila Batool
P Kumar
P Makrythanasis
P Makrythanasis
PD Stenson
Periklis Makrythanasis
PK Maulik
R Guerois
RP Hull
S Mi
S Mi
S Mi
S Mi
Saima Riazuddin
Sheikh Riazuddin
Sohail Aziz Paracha
Stylianos E Antonarakis
Sylviane Hanquinet
Vincent Zoete
W Yin
X Lee
Z Iqbal
Zafar Iqbal
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref