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Steven A Skinner

Showing results (51-60 of 71) with videos related to

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European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Neurology. Genetics|March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental DisorderJennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
Pediatric Neurology|August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental SyndromesOlivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2021
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Pageof 8

Showing results (51-60 of 71) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Neurology. Genetics|March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i>-Related Neurodevelopmental DisorderJennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
Pediatric Neurology|August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental SyndromesOlivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2021
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Pageof 8