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Sandya Tirupathi

Showing results (11-20 of 16) with videos related to

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Neuromuscular Disorders : NMD|June 24, 2025
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathyJuliane S Müller, Shira Rabinowicz, Irina Zaharieva, et al.
Neuromuscular Disorders : NMD|July 9, 2013
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea Klein, Matthew C Pitt, John C McHugh, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Neuromuscular Disorders : NMD|June 24, 2025
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathyJuliane S Müller, Shira Rabinowicz, Irina Zaharieva, et al.
Neuromuscular Disorders : NMD|July 9, 2013
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea Klein, Matthew C Pitt, John C McHugh, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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