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8 research outputs found
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome
Author
A Koitschev
A Spoor
+42 more
AH Mehrparvar
AJ Sunkum
AK Klein
AL Abujamra
Assen Koitschev
C Dode
CH Sibley
Christiane Koitschev
D Berker
F Hanisch
HJ Lachmann
HM Hoffman
HM Hoffman
HM Hoffman
I Aksentijevich
I Aksentijevich
I Lerman-Garber
J Feldmann
J Tschopp
Jasmin B. Kuemmerle-Deschner
JB Kuemmerle-Deschner
JB Kuemmerle-Deschner
JB Kummerle-Deschner
Katharina Ummenhofer
L Agostini
M Rynne
N Ahmadi
NJ Weegerink
Norbert Deschner
Pascal N. Tyrrell
Peter Lohse
PN Hawkins
PN Hawkins
R Goldbach-Mansky
RH Wilson
RL Glaser
Sandra Hansmann
Stefan K. Plontke
Susanne M. Benseler
T Imagawa
TJ Muckle
V Pascual-Ramos
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss
Author
C Beck
CW Morton
+21 more
D Vozzi
Gasper Klancar
HS Scott
J Chung
Jernej Kovac
Katarina Trebusak Podkrajsek
M Wattenhofer
M Wattenhofer
MA Kenna
MB Petersen
NJ Weegerink
S Battelino
S Battellino
S Masmoudi
SA Fakim
Saba Battelino
T Walsh
Tadej Battelino
X Gu
YJ Lee
ZM Ahmed
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation
Author
A Veske
Ah Reum Kim
+35 more
B Bonne-Tamir
Byung Yoon Choi
D Yan
Dongsup Kim
HJ Park
HS Scott
J Lee
J Otte
Joo Hyun Park
Juyong Chung
KA King
Kyoung Yeul Lee
L Fasquelle
M Elbracht
M Guipponi
M Wattenhofer
M Wattenhofer
MB Petersen
NJ Weegerink
RW Eppsteiner
S Masmoudi
Sang Min Park
Seung-Ha Oh
Sun O Chang
SY Kim
SY Kim
T Ben-Yosef
T Hutchin
TA Meyer
Taesu Chung
V Kalatzis
Veronica Kim
Woo Jin Park
Woong-Yang Park
YJ Lee
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population
Author
A Magi
A McKenna
+44 more
A Sirmaci
AE Shearer
Ah Reum Kim
BO Choi
Byung Yoon Choi
C Abadie
C Bonnet
CC Morton
DK Chan
F Denoyelle
F Donaudy
F Mirghomizadeh
FB Cengiz
H Li
H Li
I Ebermann
J Chung
J Tan
J Zheng
Jae-Yong Nam
K Blum
K Kobayashi
K Lezirovitz
K Verhoeven
K Wang
KO Yariz
Kyung Tae Park
LJ Francey
M Grati
M Mustapha
M Schraders
Min Young Kim
MS Hildebrand
Nayoung K. D. Kim
NJ Weegerink
RJ Smith
RS Yiin
Se Jun Woo
Seung-Ha Oh
SH Askes
So Young Kim
SY Kim
T Yang
Woong-Yang Park
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis
Author
A Khalfallah
A Khalfallah
+46 more
A Vyas
AD Woolf
AF Zehnder
AF Zehnder
AJ Mowat
AM Briggs
AW Morrison
BF Boyce
BF Boyce
C Jin
CA Nava-Valdivia
DA Frenz
DALYs GBD Collaborators H
E Tsuda
EP Fowler
G Lehnerdt
GA Rodan
H Yasuda
H Yasuda
I Schrauwen
I Schrauwen
I Schrauwen
JG Emery
JH Kang
JL Ziff
JT Ney
K Jiang
L Ugozzoli
M Borenstein
M Ealy
M Ealy
M Sommen
NJ Weegerink
S Harada
S Iossa
S Iossa
S Priyadarshi
S Rodriguez
SL Teitelbaum
T Karosi
TB Huedo-Medina
U Bedi
W Liu
WS Simonet
X Feng
X Sheng
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
Author
A Oshima
Ah Reum Kim
+44 more
Bong Jik Kim
BY Choi
Byung Yoon Choi
D Baux
D Yan
Eun-Hee Jeon
FJ Castillo del
H Bolz
H Chaib
HJ Park
HM Woo
I Ebermann
J Chung
JH Park
JM Bork
JM Schultz
K Mizutari
K Tsukada
KN Alagramam
L Laer Van
LL Cavalli-Sforza
LM Astuto
M Elbracht
M Miyagawa
M Wagatsuma
Min Young Kim
Mun Young Chang
Nayoung K D Kim
NJ Weegerink
O Diaz-Horta
P Kazmierczak
RJ Morell
RJ Pennings
S Usami
S Wayne
So Young Kim
SY Kim
WE Nance
Woong-Yang Park
X Lin
XM Ouyang
XZ Liu
Y Tateno
Young Eun Han
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans
Author
A Catteau
Ah Reum Kim
+50 more
B Sagong
BY Choi
BY Choi
Byung Yoon Choi
CC Morton
D Gonzalez de Castro
D Hur
Dror Sharon
F Lopez-Rios
F Lopez-Rios
H Kimura
HJ Park
HJ Park
HJ Park
HM Woo
HS Jeong
J Chung
JH Park
JR Landis
Ju Hun Song
JW Bae
JW Bae
JY Chun
Kyu-Hee Han
L Li
M Eriksson
M Miyagawa
M Wagatsuma
MC Svidnicki
Min Young Kim
MY Chang
NJ Weegerink
P O'Donnell
QJ Wang
S Anderson
S Lee
S Usami
Seung-Ha Oh
SJ Rebscher
Soyeon Ahn
SY Choi
SY Kim
SY Kim
SY Kim
T Kudo
T Qiu
XZ Liu
YC Rah
YS Chang
Z Li
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
Author
A Hayama
A Sirmaci
+67 more
AC Batissoco
AG Janssen
Alamdar Hussain
AM de Heer
Ammad Bilal
Atika Mansoor
BK Kramer
C Searle
Celia Zazo Seco
D Seelow
DW Anderson
Francesc Palau
G Minarik
G Padma
G Rickheit
G Van Camp
H Venselaar
Hannie Kremer
Humaira Ayub
I Bukhari
IA Adzhubei
IA Belyantseva
Jaap Oostrik
JM Schultz
K Hoffmann
Kehkashan Mazhar
L Fasquelle
L Zelante
M Ben Said
M Elbracht
M Mustapha
M Schraders
Maleeha Azam
Margit Schraders
MJ Gamundi
MM Elahi
Muhammad Ajmal
N Hilgert
N Hilgert
NE Morton
NJ Weegerink
NL Sim
PM Kelley
R Bashir
R Estevez
R Qamar
Raheel Qamar
RL Santos
RL Santos
RL Snoeckx
RS Mani
S Brunak
S Naz
S Rozen
S Waldegger
Saima Siddiqi
SI Kitajiri
Sobia Shafique
Syed Tahir A. Shah
TD Matos
Tim M. Strom
TN Petersen
W Reardon
X Estivill
YA Bayazit
Z Weng
ZM Ahmed
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref