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Cindy Skinner

Showing results (21-30 of 81) with videos related to

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Genome Research|March 19, 2025
Optical genome mapping identifies rare structural variants in neural tube defectsNikhil S Sahajpal, Jane Dean, Benjamin Hilton, et al.
Journal of Autism and Developmental Disorders|June 28, 2020
Autistic Disorder: A 20 Year ChronicleCindy Skinner, Rini Pauly, Steven A Skinner, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridizationAguinaldo Bonalumi Filho, Josiane Souza, Fábio Rueda Faucz, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityMarwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Metabolic Brain Disease|February 13, 2025
A novel approach to metabolic profiling in case models of MECP2-related disordersJessica A Cooley Coleman, Bridgette A Moffitt, William C Bridges, et al.
Genome Research|June 10, 2009
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseHeather C Mefford, Gregory M Cooper, Troy Zerr, et al.
The Journal of Molecular Diagnostics : JMD|January 11, 2024
Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal SamplesUlrich Broeckel, M Anwar Iqbal, Brynn Levy, et al.
Molecular Genetics and Metabolism|June 6, 2026
Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatmentXianzun Tao, Bridgette Allen, Ethan Wilson, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphismKarl J Franek, Julia Butler, John Johnson, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 30, 2003
Absence of MeCP2 mutations in patients from the South Carolina autism projectFe Lobo-Menendez, Khalid Sossey-Alaoui, Jennifer M Bell, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
Genome Research|March 19, 2025
Optical genome mapping identifies rare structural variants in neural tube defectsNikhil S Sahajpal, Jane Dean, Benjamin Hilton, et al.
Journal of Autism and Developmental Disorders|June 28, 2020
Autistic Disorder: A 20 Year ChronicleCindy Skinner, Rini Pauly, Steven A Skinner, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridizationAguinaldo Bonalumi Filho, Josiane Souza, Fábio Rueda Faucz, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityMarwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Metabolic Brain Disease|February 13, 2025
A novel approach to metabolic profiling in case models of MECP2-related disordersJessica A Cooley Coleman, Bridgette A Moffitt, William C Bridges, et al.
Genome Research|June 10, 2009
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseHeather C Mefford, Gregory M Cooper, Troy Zerr, et al.
The Journal of Molecular Diagnostics : JMD|January 11, 2024
Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal SamplesUlrich Broeckel, M Anwar Iqbal, Brynn Levy, et al.
Molecular Genetics and Metabolism|June 6, 2026
Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatmentXianzun Tao, Bridgette Allen, Ethan Wilson, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphismKarl J Franek, Julia Butler, John Johnson, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 30, 2003
Absence of MeCP2 mutations in patients from the South Carolina autism projectFe Lobo-Menendez, Khalid Sossey-Alaoui, Jennifer M Bell, et al.
Pageof 9