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Mustafa Tekin

Showing results (171-180 of 235) with videos related to

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Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
Genetic Testing and Molecular Biomarkers|April 9, 2010
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effectsMariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar, et al.
International Journal of Pediatric Otorhinolaryngology|August 29, 2012
Unique spectrum of GJB2 mutations in MexicoMaria de la Luz Arenas-Sordo, Ibis Menendez, Edgar Hernández-Zamora, et al.
Plos One|December 1, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilityMegan McSherry, Katherine E Masih, Nursel H Elcioglu, et al.
American Journal of Human Genetics|March 15, 2025
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptomsAli H Bereshneh, Jonathan C Andrews, Daniel F Eberl, et al.
Human Mutation|February 4, 2016
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 IsoformM'hamed Grati, Denise Yan, Manmeet H Raval, et al.
Molecular Genetics and Genomics : MGG|January 31, 2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53Imen Chakchouk, M'hamed Grati, Guney Bademci, et al.
American Journal of Human Genetics|July 26, 2011
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaAsli Sirmaci, Michail Spiliopoulos, Francesco Brancati, et al.
Plos One|December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing lossOscar 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 syndromeTahir Atik, Asuman Koparir, Guney Bademci, et al.
Pageof 24

Showing results (171-180 of 235) with videos related to

Sort By:
Pageof 24
Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
Genetic Testing and Molecular Biomarkers|April 9, 2010
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effectsMariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar, et al.
International Journal of Pediatric Otorhinolaryngology|August 29, 2012
Unique spectrum of GJB2 mutations in MexicoMaria de la Luz Arenas-Sordo, Ibis Menendez, Edgar Hernández-Zamora, et al.
Plos One|December 1, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilityMegan McSherry, Katherine E Masih, Nursel H Elcioglu, et al.
American Journal of Human Genetics|March 15, 2025
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptomsAli H Bereshneh, Jonathan C Andrews, Daniel F Eberl, et al.
Human Mutation|February 4, 2016
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 IsoformM'hamed Grati, Denise Yan, Manmeet H Raval, et al.
Molecular Genetics and Genomics : MGG|January 31, 2015
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53Imen Chakchouk, M'hamed Grati, Guney Bademci, et al.
American Journal of Human Genetics|July 26, 2011
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaAsli Sirmaci, Michail Spiliopoulos, Francesco Brancati, et al.
Plos One|December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing lossOscar 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 syndromeTahir Atik, Asuman Koparir, Guney Bademci, et al.
Pageof 24