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A Reghan Foley

Showing results (31-40 of 114) with videos related to

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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.
Neuromuscular Disorders : NMD|January 30, 2024
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disordersLizan Stinissen, Sietse Bouma, Johann Böhm, et al.
Research Square|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik Ganapathy, Sandra Donkervoort, et al.
Neurology. Genetics|May 24, 2017
HSP and deafness: Neurocristopathy caused by a novel mosaic <i>SOX10</i> mutationSandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, et al.
Human Mutation|September 17, 2013
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathiesRussell J Butterfield, A Reghan Foley, Jahannaz Dastgir, 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.
Muscle & Nerve|November 10, 2018
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlationsAnita E Qualls, Sandra Donkervoort, Johanna C Herkert, et al.
Annals of Neurology|December 29, 2017
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagyXilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, et al.
BMC Neurology|March 22, 2021
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case reportNirmala Dushyanthi Sirisena, U M Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Pageof 12

Showing results (31-40 of 114) with videos related to

Sort By:
Pageof 12
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.
Neuromuscular Disorders : NMD|January 30, 2024
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disordersLizan Stinissen, Sietse Bouma, Johann Böhm, et al.
Research Square|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik Ganapathy, Sandra Donkervoort, et al.
Neurology. Genetics|May 24, 2017
HSP and deafness: Neurocristopathy caused by a novel mosaic <i>SOX10</i> mutationSandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, et al.
Human Mutation|September 17, 2013
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathiesRussell J Butterfield, A Reghan Foley, Jahannaz Dastgir, 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.
Muscle & Nerve|November 10, 2018
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlationsAnita E Qualls, Sandra Donkervoort, Johanna C Herkert, et al.
Annals of Neurology|December 29, 2017
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagyXilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, et al.
BMC Neurology|March 22, 2021
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case reportNirmala Dushyanthi Sirisena, U M Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Pageof 12