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Sarah Silverstein

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

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Molecular Genetics and Metabolism|April 11, 2025
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiencySarah Silverstein, Thomas Cassini, Jiayu Fu, et al.
Annals of Clinical and Translational Neurology|July 15, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal NeuropathyRotem Orbach, Nunziata Maio, Russell J Butterfield, et al.
Research Square|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik Ganapathy, Sandra Donkervoort, et al.
The Journal of Clinical Investigation|May 1, 2025
Collagen type VI regulates TGF-β bioavailability in skeletal muscle in micePayam Mohassel, Hailey Hearn, Jachinta Rooney, et al.
Biorxiv : the Preprint Server for Biology|April 8, 2024
Collagen type VI regulates TGFβ bioavailability in skeletal musclePayam Mohassel, Jachinta Rooney, Yaqun Zou, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort, et al.
HGG Advances|February 15, 2024
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implicationsJanelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Pageof 2

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

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Molecular Genetics and Metabolism|April 11, 2025
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiencySarah Silverstein, Thomas Cassini, Jiayu Fu, et al.
Annals of Clinical and Translational Neurology|July 15, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal NeuropathyRotem Orbach, Nunziata Maio, Russell J Butterfield, et al.
Research Square|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik Ganapathy, Sandra Donkervoort, et al.
The Journal of Clinical Investigation|May 1, 2025
Collagen type VI regulates TGF-β bioavailability in skeletal muscle in micePayam Mohassel, Hailey Hearn, Jachinta Rooney, et al.
Biorxiv : the Preprint Server for Biology|April 8, 2024
Collagen type VI regulates TGFβ bioavailability in skeletal musclePayam Mohassel, Jachinta Rooney, Yaqun Zou, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort, et al.
HGG Advances|February 15, 2024
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implicationsJanelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Pageof 2