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Guney Bademci

Showing results (41-50 of 70) with videos related to

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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.
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 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.
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.
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.
Plos One|March 3, 2011
Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approachYvonne J K Edwards, Gary W Beecham, William K Scott, et al.
JCI Insight|June 18, 2026
Distal enhancer-insulator module of GDF6 is essential for cochlear formationMohammad Faraz Zafeer, Clemer Abad, Havva Ortabozkoyun, et al.
Journal of Medical Genetics|March 19, 2026
<i>CDK4</i> and <i>CDK6</i> variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosisEsra Isik, Mohammad Faraz Zafeer, Guney Bademci, et al.
Pageof 7

Showing results (41-50 of 70) with videos related to

Sort By:
Pageof 7
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.
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 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.
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.
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.
Plos One|March 3, 2011
Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approachYvonne J K Edwards, Gary W Beecham, William K Scott, et al.
JCI Insight|June 18, 2026
Distal enhancer-insulator module of GDF6 is essential for cochlear formationMohammad Faraz Zafeer, Clemer Abad, Havva Ortabozkoyun, et al.
Journal of Medical Genetics|March 19, 2026
<i>CDK4</i> and <i>CDK6</i> variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosisEsra Isik, Mohammad Faraz Zafeer, Guney Bademci, et al.
Pageof 7