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John Pappas

Showing results (31-40 of 59) with videos related to

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Neurology(R) Neuroimmunology & Neuroinflammation|January 5, 2024
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference ProceedingsKimberly A O'Neill, Andrew Dugue, Nicolas J Abreu, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
The Journal of Clinical Investigation|February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humansSally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Pageof 6

Showing results (31-40 of 59) with videos related to

Sort By:
Pageof 6
Neurology(R) Neuroimmunology & Neuroinflammation|January 5, 2024
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference ProceedingsKimberly A O'Neill, Andrew Dugue, Nicolas J Abreu, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
The Journal of Clinical Investigation|February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humansSally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Pageof 6