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Jaya Punetha

Showing results (11-20 of 33) with videos related to

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Human Mutation|December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
Journal of Pediatric Genetics|November 16, 2018
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning AlgorithmDanielle A Callaway, Ian M Campbell, Samantha R Stover, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
American Journal of Human Genetics|July 24, 2018
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function AllelesZeynep Coban-Akdemir, Janson J White, Xiaofei Song, et al.
American Journal of Human Genetics|October 18, 2016
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular DystrophyLuca Bello, Kevin M Flanigan, Robert B Weiss, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
Annals of Clinical and Translational Neurology|April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyDana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Akanchha Kesari, Prech Uapinyoying, et al.
Human Molecular Genetics|April 5, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic herniaValerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Human Mutation|December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
Journal of Pediatric Genetics|November 16, 2018
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning AlgorithmDanielle A Callaway, Ian M Campbell, Samantha R Stover, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
American Journal of Human Genetics|July 24, 2018
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function AllelesZeynep Coban-Akdemir, Janson J White, Xiaofei Song, et al.
American Journal of Human Genetics|October 18, 2016
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular DystrophyLuca Bello, Kevin M Flanigan, Robert B Weiss, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
Annals of Clinical and Translational Neurology|April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyDana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Akanchha Kesari, Prech Uapinyoying, et al.
Human Molecular Genetics|April 5, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic herniaValerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, et al.
Pageof 4