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Mustafa Tekin

Showing results (221-230 of 235) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterationsEllen S Regalado, Lauren Mellor-Crummey, Julie De Backer, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing lossKemal O Yariz, Duygu Duman, Celia Zazo Seco, et al.
Brain : a Journal of Neurology|February 2, 2023
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screeningTrine Tangeraas, Juliana R Constante, Paul Hoff Backe, et al.
Human Genetics|June 27, 2016
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continentsDenise Yan, Demet Tekin, Guney Bademci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2015
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortGuney Bademci, Joseph Foster, Nejat Mahdieh, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Academic Pathology|October 22, 2020
A How-to Guide to Building a Robust SARS-CoV-2 Testing Program at a University-Based Health SystemStephen D Nimer, Jennifer Chapman, Lisa Reidy, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
MLL2 and KDM6A mutations in patients with Kabuki syndromeNoriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, et al.
Pageof 24

Showing results (221-230 of 235) with videos related to

Sort By:
Pageof 24
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterationsEllen S Regalado, Lauren Mellor-Crummey, Julie De Backer, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing lossKemal O Yariz, Duygu Duman, Celia Zazo Seco, et al.
Brain : a Journal of Neurology|February 2, 2023
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screeningTrine Tangeraas, Juliana R Constante, Paul Hoff Backe, et al.
Human Genetics|June 27, 2016
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continentsDenise Yan, Demet Tekin, Guney Bademci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2015
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortGuney Bademci, Joseph Foster, Nejat Mahdieh, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Academic Pathology|October 22, 2020
A How-to Guide to Building a Robust SARS-CoV-2 Testing Program at a University-Based Health SystemStephen D Nimer, Jennifer Chapman, Lisa Reidy, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
MLL2 and KDM6A mutations in patients with Kabuki syndromeNoriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, et al.
Pageof 24