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Lynda Holloway

Showing results (1-10 of 7) with videos related to

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JIMD Reports|March 6, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of <i>ST3GAL5</i> cause GM3 synthase deficiencyNatasha Rudy, Kazuhiro Aoki, Amitha Ananth, et al.
American Journal of Medical Genetics. Part A|January 26, 2016
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutationMelissa Lah, Tejasvi Niranjan, Sujata Srikanth, et al.
Molecular Genetics & Genomic Medicine|January 7, 2020
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndromeAddison Neighbors, Tonya Moss, Lynda Holloway, et al.
Molecular Genetics and Metabolism Reports|March 5, 2026
Characterization of a <i>UQCRC1</i> variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantationGerardo G Piroli, Rebecca Myers, Lynda Holloway, et al.
American Journal of Medical Genetics. Part A|September 13, 2019
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, et al.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
JIMD Reports|March 6, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of <i>ST3GAL5</i> cause GM3 synthase deficiencyNatasha Rudy, Kazuhiro Aoki, Amitha Ananth, et al.
American Journal of Medical Genetics. Part A|January 26, 2016
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutationMelissa Lah, Tejasvi Niranjan, Sujata Srikanth, et al.
Molecular Genetics & Genomic Medicine|January 7, 2020
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndromeAddison Neighbors, Tonya Moss, Lynda Holloway, et al.
Molecular Genetics and Metabolism Reports|March 5, 2026
Characterization of a <i>UQCRC1</i> variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantationGerardo G Piroli, Rebecca Myers, Lynda Holloway, et al.
American Journal of Medical Genetics. Part A|September 13, 2019
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, et al.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
Pageof 1