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Melanie May

Showing results (21-30 of 29) with videos related to

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Vision (Basel, Switzerland)|December 24, 2025
Impact of Simulated Astigmatism on Visual Acuity, Stereopsis, and Reading in Young AdultsChow Wang Ming Shato, Ricardo Noguera Louzada, Pedro Lucas Machado Magalhães, et al.
Clinical Genetics|October 19, 2021
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizuresLavanya Jain, Lindsay M Oberman, Laura Beamer, 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.
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, 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.
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.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, 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.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Vision (Basel, Switzerland)|December 24, 2025
Impact of Simulated Astigmatism on Visual Acuity, Stereopsis, and Reading in Young AdultsChow Wang Ming Shato, Ricardo Noguera Louzada, Pedro Lucas Machado Magalhães, et al.
Clinical Genetics|October 19, 2021
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizuresLavanya Jain, Lindsay M Oberman, Laura Beamer, 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.
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, 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.
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.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, 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.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
Pageof 3