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Molecular Genetics and Genomics : MGG
|
January 31, 2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Imen Chakchouk, M'hamed Grati, Guney Bademci, et al.
Plos One
|
December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, et al.
Orphanet Journal of Rare Diseases
|
October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Tahir Atik, Asuman Koparir, Guney Bademci, et al.
Annals of Human Genetics
|
November 22, 2016
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 25, 2014
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
Oscar Diaz-Horta, Asli Subasioglu-Uzak, M'hamed Grati, et al.
International Journal of Pediatric Otorhinolaryngology
|
June 7, 2017
Novel EYA1 variants causing Branchio-oto-renal syndrome
Kyle 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 syndrome
Katherina Walz, Devon Cohen, Paul M Neilsen, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 11, 2016
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
Oscar Diaz-Horta, Clemer Abad, Levent Sennaroglu, et al.
International Journal of Pediatric Otorhinolaryngology
|
October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, et al.
The Journal of Clinical Investigation
|
April 2, 2013
SLITRK6 mutations cause myopia and deafness in humans and mice
Mustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, et al.
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Search research articles
Search
Showing results (21-30 of 32) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Genomics : MGG
|
January 31, 2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Imen Chakchouk, M'hamed Grati, Guney Bademci, et al.
Plos One
|
December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, et al.
Orphanet Journal of Rare Diseases
|
October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Tahir Atik, Asuman Koparir, Guney Bademci, et al.
Annals of Human Genetics
|
November 22, 2016
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 25, 2014
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
Oscar Diaz-Horta, Asli Subasioglu-Uzak, M'hamed Grati, et al.
International Journal of Pediatric Otorhinolaryngology
|
June 7, 2017
Novel EYA1 variants causing Branchio-oto-renal syndrome
Kyle 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 syndrome
Katherina Walz, Devon Cohen, Paul M Neilsen, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 11, 2016
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
Oscar Diaz-Horta, Clemer Abad, Levent Sennaroglu, et al.
International Journal of Pediatric Otorhinolaryngology
|
October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, et al.
The Journal of Clinical Investigation
|
April 2, 2013
SLITRK6 mutations cause myopia and deafness in humans and mice
Mustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, et al.
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of 4