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Steven A Skinner

Showing results (31-40 of 71) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, et al.
Journal of Medical Genetics|January 9, 2014
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeVishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, et al.
American Journal of Medical Genetics. Part A|September 28, 2023
Parental age effects and Rett syndromeXiaolan Fang, Lauren M Baggett, Raymond C Caylor, et al.
The Journal of Pediatrics|January 22, 2022
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett SyndromeKathleen J Motil, Suzanne Geerts, Fran Annese, et al.
Biological Psychiatry|May 19, 2020
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in MiceAdam J Harrington, Catherine M Bridges, Stefano Berto, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 12, 2018
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2Jeffrey L Neul, Timothy A Benke, Eric D Marsh, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|August 24, 2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlationsJennifer K Gentile, Wen-Hann Tan, Lucia T Horowitz, 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.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical TrialsMelissa Raspa, Carla M Bann, Angela Gwaltney, et al.
Pageof 8

Showing results (31-40 of 71) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, et al.
Journal of Medical Genetics|January 9, 2014
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeVishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, et al.
American Journal of Medical Genetics. Part A|September 28, 2023
Parental age effects and Rett syndromeXiaolan Fang, Lauren M Baggett, Raymond C Caylor, et al.
The Journal of Pediatrics|January 22, 2022
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett SyndromeKathleen J Motil, Suzanne Geerts, Fran Annese, et al.
Biological Psychiatry|May 19, 2020
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in MiceAdam J Harrington, Catherine M Bridges, Stefano Berto, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 12, 2018
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2Jeffrey L Neul, Timothy A Benke, Eric D Marsh, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|August 24, 2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlationsJennifer K Gentile, Wen-Hann Tan, Lucia T Horowitz, 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.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical TrialsMelissa Raspa, Carla M Bann, Angela Gwaltney, et al.
Pageof 8