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Cindy Skinner

Showing results (51-60 of 81) with videos related to

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Clinical Genetics|May 18, 2023
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individualsBridgette A Moffitt, Lindsay M Oberman, Laura Beamer, et al.
Genes|February 27, 2026
Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 IndividualsEmily Payne, Bridgette A Moffitt, Lindsay M Oberman, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
Cell Reports. Medicine|May 5, 2021
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilitiesRossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, et al.
BMC Medical Genomics|January 30, 2013
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya, Barian H Y Chung, Darci T Butcher, et al.
Research Square|March 30, 2023
Eye movement defects in KO zebrafish reveals <i>SRPK3</i> as a causative gene for an X-linked intellectual disabilityYu-Ri Lee, Mervyn G Thomas, Arkaprava Roychaudhury, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
Journal of Medical Genetics|March 21, 2007
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneCharles E Schwartz, Patrick S Tarpey, Herbert A Lubs, et al.
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.
Pageof 9

Showing results (51-60 of 81) with videos related to

Sort By:
Pageof 9
Clinical Genetics|May 18, 2023
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individualsBridgette A Moffitt, Lindsay M Oberman, Laura Beamer, et al.
Genes|February 27, 2026
Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 IndividualsEmily Payne, Bridgette A Moffitt, Lindsay M Oberman, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
Cell Reports. Medicine|May 5, 2021
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilitiesRossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, et al.
BMC Medical Genomics|January 30, 2013
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya, Barian H Y Chung, Darci T Butcher, et al.
Research Square|March 30, 2023
Eye movement defects in KO zebrafish reveals <i>SRPK3</i> as a causative gene for an X-linked intellectual disabilityYu-Ri Lee, Mervyn G Thomas, Arkaprava Roychaudhury, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
Journal of Medical Genetics|March 21, 2007
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneCharles E Schwartz, Patrick S Tarpey, Herbert A Lubs, et al.
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.
Pageof 9