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Journal of Neuromuscular Diseases
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August 20, 2019
A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy
Tanya Bardakjian, Steven S Scherer
Handbook of Clinical Neurology
|
January 13, 2018
Towards precision medicine
Tanya 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 clinic
Jennifer Klapper, Tanya Bardakjian, Ian Sigal, et al.
Neuro-Ophthalmology (Aeolus Press)
|
October 5, 2020
Contrast Acuity and the King-Devick Test in Huntington's Disease
Ali 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 phenotypes
Linda 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 microphthalmia
Sarah 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 microphthalmia
Adele 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 phenotypes
Linda 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 mutation
Maria 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 study
Louise Amlie-Wolf, Tanya Bardakjian, Sarina M Kopinsky, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 36) with videos related to
Sort By:
Page
of 4
Journal of Neuromuscular Diseases
|
August 20, 2019
A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy
Tanya Bardakjian, Steven S Scherer
Handbook of Clinical Neurology
|
January 13, 2018
Towards precision medicine
Tanya 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 clinic
Jennifer Klapper, Tanya Bardakjian, Ian Sigal, et al.
Neuro-Ophthalmology (Aeolus Press)
|
October 5, 2020
Contrast Acuity and the King-Devick Test in Huntington's Disease
Ali 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 phenotypes
Linda 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 microphthalmia
Sarah 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 microphthalmia
Adele 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 phenotypes
Linda 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 mutation
Maria 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 study
Louise Amlie-Wolf, Tanya Bardakjian, Sarina M Kopinsky, et al.
Page
of 4