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Guney Bademci

Showing results (21-30 of 70) with videos related to

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Human Mutation|April 26, 2013
High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Liyong Wang, Karen Nuytemans, Guney Bademci, et al.
Urology|July 4, 2018
Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic FailureRaul I Clavijo, Himanshu Arora, Eric Gibbs, et al.
European Journal of Human Genetics : EJHG|April 12, 2021
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implicationsAlexander O'Brien, Wen Yih Aw, Hui Yi Tee, et al.
American Journal of Medical Genetics. Part A|February 13, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorderIrman Forghani, Steven H Lang, Matthew J Rodier, et al.
Journal of Pediatric Genetics|May 13, 2017
Novel Causative Variants in <i>DYRK1A, KARS</i>, and <i>KAT6A</i> Associated with Intellectual Disability and Additional Phenotypic FeaturesClark R Murray, Samantha N Abel, Matthew B McClure, et al.
Clinical Dysmorphology|December 5, 2017
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopeniaSteven V Lord, Joaquin E Jimenez, Zachary A Kroeger, et al.
Molecular Genetics & Genomic Medicine|March 5, 2022
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic diseaseNicholas Borja, Stephanie Bivona, Lé Shon Peart, et al.
Genetic Testing and Molecular Biomarkers|July 26, 2014
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing lossGuney Bademci, Oscar Diaz-Horta, Shengru Guo, et al.
Clinical Genetics|August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing lossOscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Human Genetics|June 9, 2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing lossClaire J Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, et al.
Pageof 7

Showing results (21-30 of 70) with videos related to

Sort By:
Pageof 7
Human Mutation|April 26, 2013
High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Liyong Wang, Karen Nuytemans, Guney Bademci, et al.
Urology|July 4, 2018
Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic FailureRaul I Clavijo, Himanshu Arora, Eric Gibbs, et al.
European Journal of Human Genetics : EJHG|April 12, 2021
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implicationsAlexander O'Brien, Wen Yih Aw, Hui Yi Tee, et al.
American Journal of Medical Genetics. Part A|February 13, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorderIrman Forghani, Steven H Lang, Matthew J Rodier, et al.
Journal of Pediatric Genetics|May 13, 2017
Novel Causative Variants in <i>DYRK1A, KARS</i>, and <i>KAT6A</i> Associated with Intellectual Disability and Additional Phenotypic FeaturesClark R Murray, Samantha N Abel, Matthew B McClure, et al.
Clinical Dysmorphology|December 5, 2017
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopeniaSteven V Lord, Joaquin E Jimenez, Zachary A Kroeger, et al.
Molecular Genetics & Genomic Medicine|March 5, 2022
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic diseaseNicholas Borja, Stephanie Bivona, Lé Shon Peart, et al.
Genetic Testing and Molecular Biomarkers|July 26, 2014
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing lossGuney Bademci, Oscar Diaz-Horta, Shengru Guo, et al.
Clinical Genetics|August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing lossOscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Human Genetics|June 9, 2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing lossClaire J Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, et al.
Pageof 7