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The Journal of Clinical Investigation
|
October 4, 2011
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
Byung Yoon Choi, Hyoung-Mi Kim, Taku Ito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 25, 2003
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
Ruth M Liberfarb, Howard P Levy, Peter S Rose, et al.
Elife
|
November 9, 2021
Proposed therapy, developed in a <i>Pcdh15</i>-deficient mouse, for progressive loss of vision in human Usher syndrome
Saumil Sethna, Wadih M Zein, Sehar Riaz, et al.
European Journal of Human Genetics : EJHG
|
November 27, 2021
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
Adebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, et al.
Clinical Genetics
|
October 22, 2020
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome
Talah T Wafa, Rabia Faridi, Kelly A King, et al.
The Laryngoscope
|
December 10, 2009
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
Kelly A King, Byung Yoon Choi, Christopher Zalewski, et al.
Science Advances
|
October 9, 2024
SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac
Hyun Jae Lee, Cristina Fenollar-Ferrer, Kevin Isgrig, et al.
Journal of Medical Genetics
|
August 7, 2017
A common <i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Parna Chattaraj, Tina Munjal, Keiji Honda, et al.
The New England Journal of Medicine
|
April 25, 2003
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
Tamar Ben-Yosef, Seth L Ness, Anne C Madeo, et al.
American Journal of Human Genetics
|
July 30, 2002
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
Sadaf Naz, Chantal M Giguere, David C Kohrman, et al.
Page
of 11
Search research articles
Search
Showing results (81-90 of 109) with videos related to
Sort By:
Page
of 11
The Journal of Clinical Investigation
|
October 4, 2011
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
Byung Yoon Choi, Hyoung-Mi Kim, Taku Ito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 25, 2003
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
Ruth M Liberfarb, Howard P Levy, Peter S Rose, et al.
Elife
|
November 9, 2021
Proposed therapy, developed in a <i>Pcdh15</i>-deficient mouse, for progressive loss of vision in human Usher syndrome
Saumil Sethna, Wadih M Zein, Sehar Riaz, et al.
European Journal of Human Genetics : EJHG
|
November 27, 2021
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
Adebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, et al.
Clinical Genetics
|
October 22, 2020
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome
Talah T Wafa, Rabia Faridi, Kelly A King, et al.
The Laryngoscope
|
December 10, 2009
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
Kelly A King, Byung Yoon Choi, Christopher Zalewski, et al.
Science Advances
|
October 9, 2024
SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac
Hyun Jae Lee, Cristina Fenollar-Ferrer, Kevin Isgrig, et al.
Journal of Medical Genetics
|
August 7, 2017
A common <i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Parna Chattaraj, Tina Munjal, Keiji Honda, et al.
The New England Journal of Medicine
|
April 25, 2003
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
Tamar Ben-Yosef, Seth L Ness, Anne C Madeo, et al.
American Journal of Human Genetics
|
July 30, 2002
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
Sadaf Naz, Chantal M Giguere, David C Kohrman, et al.
Page
of 11