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Current Opinion in Pediatrics
|
August 24, 2016
Navigating genetic diagnostics in patients with hearing loss
Christina M Sloan-Heggen, Richard J H Smith
Hearing Research
|
October 22, 2011
Deafness in the genomics era
A Eliot Shearer, Michael S Hildebrand, Christina M Sloan, et al.
American Journal of Medical Genetics. Part A
|
March 9, 2023
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant
Daniel T Kashima, Christina M Sloan-Heggen, Rachel J Gottlieb-Smith, et al.
Small Gtpases
|
June 8, 2012
Divergence of Rho residue 43 impacts GEF activity
Christina M Sloan, Clancy V Quinn, Justin P Peters, et al.
The Annals of Otology, Rhinology, and Laryngology
|
March 21, 2015
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
Hideaki Moteki, A Eliot Shearer, Shuji Izumi, et al.
The Annals of Otology, Rhinology, and Laryngology
|
March 7, 2015
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
Hideaki Moteki, Hidekane Yoshimura, Hela Azaiez, et al.
Hearing Research
|
February 19, 2017
Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance
A Eliot Shearer, Robert W Eppsteiner, Kathy Frees, et al.
Genome Medicine
|
June 26, 2014
Copy number variants are a common cause of non-syndromic hearing loss
A Eliot Shearer, Diana L Kolbe, Hela Azaiez, et al.
The Annals of Otology, Rhinology, and Laryngology
|
March 20, 2015
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation
Hideaki Moteki, Hela Azaiez, Kevin T Booth, et al.
The Annals of Otology, Rhinology, and Laryngology
|
July 30, 2016
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
Hideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Current Opinion in Pediatrics
|
August 24, 2016
Navigating genetic diagnostics in patients with hearing loss
Christina M Sloan-Heggen, Richard J H Smith
Hearing Research
|
October 22, 2011
Deafness in the genomics era
A Eliot Shearer, Michael S Hildebrand, Christina M Sloan, et al.
American Journal of Medical Genetics. Part A
|
March 9, 2023
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant
Daniel T Kashima, Christina M Sloan-Heggen, Rachel J Gottlieb-Smith, et al.
Small Gtpases
|
June 8, 2012
Divergence of Rho residue 43 impacts GEF activity
Christina M Sloan, Clancy V Quinn, Justin P Peters, et al.
The Annals of Otology, Rhinology, and Laryngology
|
March 21, 2015
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
Hideaki Moteki, A Eliot Shearer, Shuji Izumi, et al.
The Annals of Otology, Rhinology, and Laryngology
|
March 7, 2015
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
Hideaki Moteki, Hidekane Yoshimura, Hela Azaiez, et al.
Hearing Research
|
February 19, 2017
Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance
A Eliot Shearer, Robert W Eppsteiner, Kathy Frees, et al.
Genome Medicine
|
June 26, 2014
Copy number variants are a common cause of non-syndromic hearing loss
A Eliot Shearer, Diana L Kolbe, Hela Azaiez, et al.
The Annals of Otology, Rhinology, and Laryngology
|
March 20, 2015
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation
Hideaki Moteki, Hela Azaiez, Kevin T Booth, et al.
The Annals of Otology, Rhinology, and Laryngology
|
July 30, 2016
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
Hideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, et al.
Page
of 2