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Mustafa Tekin

Showing results (191-200 of 235) with videos related to

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Human Genetics|March 30, 2016
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60Mariem Ben Said, M'hamed Grati, Takahiro Ishimoto, et al.
Advanced Genetics (Hoboken, N.J.)|December 30, 2024
Extreme Phenotypic Variability of <i>ACTG1</i>-Related Disorders in Hearing LossMaria T Bernardi, Memoona Ramzan, Laura Calderon, et al.
Plos One|December 10, 2016
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?Eva Seemanova, Raymonda Varon, Jan Vejvalka, et al.
JCI Insight|February 1, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasiaVladimir Camarena, Monique M Williams, Alejo A Morales, et al.
Ear and Hearing|January 1, 2014
Similar phenotypes caused by mutations in OTOG and OTOGLAnne M M Oonk, Joop M Leijendeckers, Patrick L M Huygen, et al.
International Journal of Pediatric Otorhinolaryngology|June 7, 2017
Novel EYA1 variants causing Branchio-oto-renal syndromeKyle D Klingbeil, Christopher M Greenland, Selcuk Arslan, et al.
Human Genetics|November 22, 2014
Characterization of ANKRD11 mutations in humans and mice related to KBG syndromeKatherina Walz, Devon Cohen, Paul M Neilsen, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
The Journal of Clinical Investigation|May 6, 2020
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear developmentGuney Bademci, Clemer Abad, Filiz B Cengiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Pageof 24

Showing results (191-200 of 235) with videos related to

Sort By:
Pageof 24
Human Genetics|March 30, 2016
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60Mariem Ben Said, M'hamed Grati, Takahiro Ishimoto, et al.
Advanced Genetics (Hoboken, N.J.)|December 30, 2024
Extreme Phenotypic Variability of <i>ACTG1</i>-Related Disorders in Hearing LossMaria T Bernardi, Memoona Ramzan, Laura Calderon, et al.
Plos One|December 10, 2016
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?Eva Seemanova, Raymonda Varon, Jan Vejvalka, et al.
JCI Insight|February 1, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasiaVladimir Camarena, Monique M Williams, Alejo A Morales, et al.
Ear and Hearing|January 1, 2014
Similar phenotypes caused by mutations in OTOG and OTOGLAnne M M Oonk, Joop M Leijendeckers, Patrick L M Huygen, et al.
International Journal of Pediatric Otorhinolaryngology|June 7, 2017
Novel EYA1 variants causing Branchio-oto-renal syndromeKyle D Klingbeil, Christopher M Greenland, Selcuk Arslan, et al.
Human Genetics|November 22, 2014
Characterization of ANKRD11 mutations in humans and mice related to KBG syndromeKatherina Walz, Devon Cohen, Paul M Neilsen, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
The Journal of Clinical Investigation|May 6, 2020
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear developmentGuney Bademci, Clemer Abad, Filiz B Cengiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Pageof 24