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Mustafa Tekin

Showing results (161-170 of 235) with videos related to

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Scientific Reports|January 2, 2025
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomaliesAshraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, et al.
Communications Biology|December 28, 2020
Radixin modulates the function of outer hair cell stereociliaSonal Prasad, Barbara Vona, Marta Diñeiro, et al.
Genes|April 1, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South FloridaSaradadevi Thanikachalam, Elizabeth Hodapp, Ta C Chang, et al.
BMC Medical Genetics|May 1, 2015
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populationsGuney Bademci, Akeem Lasisi, Kemal O Yariz, et al.
Human Genomics|February 8, 2006
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian populationTom Walsh, Amal Abu Rayan, Judeh Abu Sa'ed, et al.
American Journal of Human Genetics|January 20, 2007
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaMustafa Tekin, Burcu Oztürk Hişmi, Suat Fitoz, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.
Plos One|December 12, 2017
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failureChristina Y Hung, Barbara Volkmar, James D Baker, et al.
Pageof 24

Showing results (161-170 of 235) with videos related to

Sort By:
Pageof 24
Scientific Reports|January 2, 2025
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomaliesAshraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, et al.
Communications Biology|December 28, 2020
Radixin modulates the function of outer hair cell stereociliaSonal Prasad, Barbara Vona, Marta Diñeiro, et al.
Genes|April 1, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South FloridaSaradadevi Thanikachalam, Elizabeth Hodapp, Ta C Chang, et al.
BMC Medical Genetics|May 1, 2015
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populationsGuney Bademci, Akeem Lasisi, Kemal O Yariz, et al.
Human Genomics|February 8, 2006
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian populationTom Walsh, Amal Abu Rayan, Judeh Abu Sa'ed, et al.
American Journal of Human Genetics|January 20, 2007
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaMustafa Tekin, Burcu Oztürk Hişmi, Suat Fitoz, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.
Plos One|December 12, 2017
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failureChristina Y Hung, Barbara Volkmar, James D Baker, et al.
Pageof 24