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American Journal of Human Genetics
|
May 11, 2010
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss
Asli Sirmaci, Seyra Erbek, Justin Price, et al.
Human Genetics
|
July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Guney Bademci, Clemer Abad, Armagan Incesulu, et al.
Human Molecular Genetics
|
March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.
American Journal of Human Genetics
|
October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Hyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.
International Journal of Pediatric Otorhinolaryngology
|
October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
The Journal of Clinical Investigation
|
April 2, 2013
SLITRK6 mutations cause myopia and deafness in humans and mice
Mustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
The Journal of Clinical Investigation
|
September 30, 2025
Carboxypeptidase D deficiency causes hearing loss amenable to treatment
Memoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, et al.
Page
of 24
Search research articles
Search
Showing results (211-220 of 235) with videos related to
Sort By:
Page
of 24
American Journal of Human Genetics
|
May 11, 2010
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss
Asli Sirmaci, Seyra Erbek, Justin Price, et al.
Human Genetics
|
July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Guney Bademci, Clemer Abad, Armagan Incesulu, et al.
Human Molecular Genetics
|
March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.
American Journal of Human Genetics
|
October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Hyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.
International Journal of Pediatric Otorhinolaryngology
|
October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
The Journal of Clinical Investigation
|
April 2, 2013
SLITRK6 mutations cause myopia and deafness in humans and mice
Mustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
The Journal of Clinical Investigation
|
September 30, 2025
Carboxypeptidase D deficiency causes hearing loss amenable to treatment
Memoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, et al.
Page
of 24