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Andrew J Griffith

Showing results (101-110 of 109) with videos related to

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Cell|June 1, 2010
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearingShin-ichiro Kitajiri, Takeshi Sakamoto, Inna A Belyantseva, et al.
Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 30, 2017
<i>NLRP3</i> mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapyHiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, et al.
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossMayher J Patel, Marina T DiStefano, Andrea M Oza, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
Pageof 11

Showing results (101-110 of 109) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 109 results.
Cell|June 1, 2010
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearingShin-ichiro Kitajiri, Takeshi Sakamoto, Inna A Belyantseva, et al.
Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 30, 2017
<i>NLRP3</i> mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapyHiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, et al.
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossMayher J Patel, Marina T DiStefano, Andrea M Oza, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
Pageof 11