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Guney Bademci

Showing results (31-40 of 70) with videos related to

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Molecular Cytogenetics|August 21, 2018
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomaliesMeng Su, Paul J Benke, Guney Bademci, et al.
American Journal of Medical Genetics. Part A|March 29, 2023
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndromeNicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemiaKumarie Latchman, Jeanette Brown, Claire J Sineni, et al.
American Journal of Medical Genetics. Part A|February 14, 2024
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing lossDuygu Duman, Memoona Ramzan, Asli Subasioglu, et al.
Genes|August 3, 2019
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian PopulationErick Figueroa-Ildefonso, Guney Bademci, Farid Rajabli, et al.
Communications Biology|December 28, 2020
Radixin modulates the function of outer hair cell stereociliaSonal Prasad, Barbara Vona, Marta Diñeiro, et al.
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.
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.
Neurology|February 15, 2013
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson diseaseKaren Nuytemans, Guney Bademci, Vanessa Inchausti, et al.
Pageof 7

Showing results (31-40 of 70) with videos related to

Sort By:
Pageof 7
Molecular Cytogenetics|August 21, 2018
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomaliesMeng Su, Paul J Benke, Guney Bademci, et al.
American Journal of Medical Genetics. Part A|March 29, 2023
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndromeNicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemiaKumarie Latchman, Jeanette Brown, Claire J Sineni, et al.
American Journal of Medical Genetics. Part A|February 14, 2024
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing lossDuygu Duman, Memoona Ramzan, Asli Subasioglu, et al.
Genes|August 3, 2019
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian PopulationErick Figueroa-Ildefonso, Guney Bademci, Farid Rajabli, et al.
Communications Biology|December 28, 2020
Radixin modulates the function of outer hair cell stereociliaSonal Prasad, Barbara Vona, Marta Diñeiro, et al.
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.
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.
Neurology|February 15, 2013
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson diseaseKaren Nuytemans, Guney Bademci, Vanessa Inchausti, et al.
Pageof 7