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Tanya Bardakjian

Showing results (1-10 of 36) with videos related to

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Journal of Neuromuscular Diseases|August 20, 2019
A MT-ATP6 Mutation Causes a Slowly Progressive MyeloneuropathyTanya Bardakjian, Steven S Scherer
Handbook of Clinical Neurology|January 13, 2018
Towards precision medicineTanya Bardakjian, Pedro Gonzalez-Alegre
Clinical Parkinsonism & Related Disorders|April 26, 2021
Healthcare delivery via telehealth during the COVID-19 pandemic: The experience of a Huntington's disease clinicJennifer Klapper, Tanya Bardakjian, Ian Sigal, et al.
Neuro-Ophthalmology (Aeolus Press)|October 5, 2020
Contrast Acuity and the King-Devick Test in Huntington's DiseaseAli G Hamedani, Tanya Bardakjian, Laura J Balcer, et al.
Molecular Vision|May 11, 2010
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesLinda M Reis, Rebecca C Tyler, Adele Schneider, et al.
Journal of Medical Genetics|December 3, 2025
Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmiaSarah E Seese, Linda M Reis, Adele Schneider, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmiaAdele Schneider, Tanya Bardakjian, Linda M Reis, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypesLinda M Reis, Nicolas Chassaing, Tanya Bardakjian, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 19, 2018
Ocular manifestations of PACS1 mutationMaria Pefkianaki, Adele Schneider, Jenina E Capasso, et al.
American Journal of Medical Genetics. Part A|September 25, 2021
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research studyLouise Amlie-Wolf, Tanya Bardakjian, Sarina M Kopinsky, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Journal of Neuromuscular Diseases|August 20, 2019
A MT-ATP6 Mutation Causes a Slowly Progressive MyeloneuropathyTanya Bardakjian, Steven S Scherer
Handbook of Clinical Neurology|January 13, 2018
Towards precision medicineTanya Bardakjian, Pedro Gonzalez-Alegre
Clinical Parkinsonism & Related Disorders|April 26, 2021
Healthcare delivery via telehealth during the COVID-19 pandemic: The experience of a Huntington's disease clinicJennifer Klapper, Tanya Bardakjian, Ian Sigal, et al.
Neuro-Ophthalmology (Aeolus Press)|October 5, 2020
Contrast Acuity and the King-Devick Test in Huntington's DiseaseAli G Hamedani, Tanya Bardakjian, Laura J Balcer, et al.
Molecular Vision|May 11, 2010
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesLinda M Reis, Rebecca C Tyler, Adele Schneider, et al.
Journal of Medical Genetics|December 3, 2025
Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmiaSarah E Seese, Linda M Reis, Adele Schneider, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmiaAdele Schneider, Tanya Bardakjian, Linda M Reis, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypesLinda M Reis, Nicolas Chassaing, Tanya Bardakjian, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 19, 2018
Ocular manifestations of PACS1 mutationMaria Pefkianaki, Adele Schneider, Jenina E Capasso, et al.
American Journal of Medical Genetics. Part A|September 25, 2021
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research studyLouise Amlie-Wolf, Tanya Bardakjian, Sarina M Kopinsky, et al.
Pageof 4