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Steven A Skinner

Showing results (1-10 of 71) with videos related to

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Expert Opinion on Orphan Drugs|February 7, 2017
Neurobiologically-based treatments in Rett syndrome: opportunities and challengesWalter E Kaufmann, Jennifer L Stallworth, David B Everman, et al.
Translational Science of Rare Diseases|April 24, 2018
When Rett syndrome is due to genes other than <i>MECP2</i>Alan K Percy, Jane Lane, Fran Annese, et al.
American Journal of Medical Genetics. Part A|June 29, 2021
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic reviewJessica A Cooley Coleman, Sara M Sarasua, Luigi Boccuto, et al.
Nursing Open|April 2, 2021
Tremors: A concept analysisJessica A Cooley Coleman, Sara M Sarasua, Luigi Boccuto, et al.
Genes|May 25, 2024
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett SyndromeJonathan K Merritt, Xiaolan Fang, Raymond C Caylor, et al.
Molecular Genetics & Genomic Medicine|April 13, 2022
Clinical findings from the landmark MEF2C-related disorders natural history studyJessica A Cooley Coleman, Sara M Sarasua, Hannah Warren Moore, et al.
Pediatric Neurology|October 30, 2024
MECP2 Variants in Males: More Common than Previously AppreciatedAmitha Ananth, Cary Fu, Jeffrey L Neul, et al.
Frontiers in Integrative Neuroscience|March 13, 2020
Metabolic Signatures Differentiate Rett Syndrome From Unaffected SiblingsJeffrey L Neul, Steven A Skinner, Fran Annese, 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.
Clinical Case Reports|November 21, 2018
Two unrelated patients with autosomal dominant omodysplasia and <i>FRIZZLED2</i> mutationsHannah E Warren, Raymond J Louie, Michael J Friez, et al.
Pageof 8

Showing results (1-10 of 71) with videos related to

Sort By:
Pageof 8
Expert Opinion on Orphan Drugs|February 7, 2017
Neurobiologically-based treatments in Rett syndrome: opportunities and challengesWalter E Kaufmann, Jennifer L Stallworth, David B Everman, et al.
Translational Science of Rare Diseases|April 24, 2018
When Rett syndrome is due to genes other than <i>MECP2</i>Alan K Percy, Jane Lane, Fran Annese, et al.
American Journal of Medical Genetics. Part A|June 29, 2021
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic reviewJessica A Cooley Coleman, Sara M Sarasua, Luigi Boccuto, et al.
Nursing Open|April 2, 2021
Tremors: A concept analysisJessica A Cooley Coleman, Sara M Sarasua, Luigi Boccuto, et al.
Genes|May 25, 2024
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett SyndromeJonathan K Merritt, Xiaolan Fang, Raymond C Caylor, et al.
Molecular Genetics & Genomic Medicine|April 13, 2022
Clinical findings from the landmark MEF2C-related disorders natural history studyJessica A Cooley Coleman, Sara M Sarasua, Hannah Warren Moore, et al.
Pediatric Neurology|October 30, 2024
MECP2 Variants in Males: More Common than Previously AppreciatedAmitha Ananth, Cary Fu, Jeffrey L Neul, et al.
Frontiers in Integrative Neuroscience|March 13, 2020
Metabolic Signatures Differentiate Rett Syndrome From Unaffected SiblingsJeffrey L Neul, Steven A Skinner, Fran Annese, 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.
Clinical Case Reports|November 21, 2018
Two unrelated patients with autosomal dominant omodysplasia and <i>FRIZZLED2</i> mutationsHannah E Warren, Raymond J Louie, Michael J Friez, et al.
Pageof 8