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Guney Bademci

Showing results (61-70 of 70) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|June 21, 2022
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceGuney Bademci, María Lachgar-Ruiz, Mangesh Deokar, et al.
Human Molecular Genetics|December 19, 2018
FOXF2 is required for cochlear development in humans and miceGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Journal of Human Genetics|May 22, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing lossMemoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
International Journal of Pediatric Otorhinolaryngology|October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohortFiliz 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 spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, 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 Communications|February 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al.
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Showing results (61-70 of 70) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 70 results.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2022
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceGuney Bademci, María Lachgar-Ruiz, Mangesh Deokar, et al.
Human Molecular Genetics|December 19, 2018
FOXF2 is required for cochlear development in humans and miceGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Journal of Human Genetics|May 22, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing lossMemoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
International Journal of Pediatric Otorhinolaryngology|October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohortFiliz 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 spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, 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 Communications|February 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al.
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