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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 23, 2019
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs
Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.
The Annals of Otology, Rhinology, and Laryngology
|
November 5, 2015
Audioprofile Surfaces: The 21st Century Audiogram
Kyle R Taylor, Kevin T Booth, Hela Azaiez, et al.
Clinical Genetics
|
March 13, 2021
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran
Marzieh Mohseni, Mojgan Babanejad, Kevin T Booth, et al.
Molecular Psychiatry
|
June 5, 2013
Childhood cognitive ability accounts for associations between cognitive ability and brain cortical thickness in old age
S Karama, M E Bastin, C Murray, et al.
Human Genetics
|
May 9, 2020
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
W Daniel Walls, Hideaki Moteki, Taylor R Thomas, et al.
Human Mutation
|
October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2023
Transcriptional Activation of Regenerative Hematopoiesis via Vascular Niche Sensing
Tomer Itkin, Sean Houghton, Ryan Schreiner, et al.
Human Genetics
|
January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Journal of Medical Genetics
|
October 9, 2015
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, et al.
European Journal of Human Genetics : EJHG
|
January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
Page
of 27
Search research articles
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Showing results (251-260 of 265) with videos related to
Sort By:
Page
of 27
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 23, 2019
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs
Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.
The Annals of Otology, Rhinology, and Laryngology
|
November 5, 2015
Audioprofile Surfaces: The 21st Century Audiogram
Kyle R Taylor, Kevin T Booth, Hela Azaiez, et al.
Clinical Genetics
|
March 13, 2021
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran
Marzieh Mohseni, Mojgan Babanejad, Kevin T Booth, et al.
Molecular Psychiatry
|
June 5, 2013
Childhood cognitive ability accounts for associations between cognitive ability and brain cortical thickness in old age
S Karama, M E Bastin, C Murray, et al.
Human Genetics
|
May 9, 2020
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
W Daniel Walls, Hideaki Moteki, Taylor R Thomas, et al.
Human Mutation
|
October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2023
Transcriptional Activation of Regenerative Hematopoiesis via Vascular Niche Sensing
Tomer Itkin, Sean Houghton, Ryan Schreiner, et al.
Human Genetics
|
January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Journal of Medical Genetics
|
October 9, 2015
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, et al.
European Journal of Human Genetics : EJHG
|
January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
Page
of 27