Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Cindy Skinner

Showing results (41-50 of 81) with videos related to

Pageof 9
Sort By:
Proceedings of the National Academy of Sciences of the United States of America|March 9, 2011
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autismRebeca Mejias, Abby Adamczyk, Victor Anggono, et al.
American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
The Journal of Biological Chemistry|March 18, 2017
Identification and characterization of a missense mutation in the <i>O</i>-linked β-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disabilityKrithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
Clinical Chemistry|April 30, 2014
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spotsYoshimi Inaba, Charles E Schwartz, Quang M Bui, et al.
Expert Reviews in Molecular Medicine|July 2, 2015
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysisDavid E Godler, Yoshimi Inaba, Charles E Schwartz, et al.
Human Molecular Genetics|September 6, 2022
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolismMaxwell B Colonna, Tonya Moss, Sneha Mokashi, et al.
Biomedicines|May 25, 2024
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination TreatmentLaura Pérez-Cano, Luigi Boccuto, Francesco Sirci, et al.
Human Molecular Genetics|April 4, 2017
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expressionLise-Marie Donnio, Baptiste Bidon, Satoru Hashimoto, et al.
Journal of Medical Genetics|May 15, 2012
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderJirair Krikor Bedoyan, Valerie M Schaibley, Weiping Peng, et al.
Pageof 9

Showing results (41-50 of 81) with videos related to

Sort By:
Pageof 9
Proceedings of the National Academy of Sciences of the United States of America|March 9, 2011
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autismRebeca Mejias, Abby Adamczyk, Victor Anggono, et al.
American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
The Journal of Biological Chemistry|March 18, 2017
Identification and characterization of a missense mutation in the <i>O</i>-linked β-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disabilityKrithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
Clinical Chemistry|April 30, 2014
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spotsYoshimi Inaba, Charles E Schwartz, Quang M Bui, et al.
Expert Reviews in Molecular Medicine|July 2, 2015
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysisDavid E Godler, Yoshimi Inaba, Charles E Schwartz, et al.
Human Molecular Genetics|September 6, 2022
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolismMaxwell B Colonna, Tonya Moss, Sneha Mokashi, et al.
Biomedicines|May 25, 2024
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination TreatmentLaura Pérez-Cano, Luigi Boccuto, Francesco Sirci, et al.
Human Molecular Genetics|April 4, 2017
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expressionLise-Marie Donnio, Baptiste Bidon, Satoru Hashimoto, et al.
Journal of Medical Genetics|May 15, 2012
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderJirair Krikor Bedoyan, Valerie M Schaibley, Weiping Peng, et al.
Pageof 9