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Showing results (241-250 of 247) with videos related to

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Plos Genetics|February 21, 2012
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disordersClaire S Leblond, Jutta Heinrich, Richard Delorme, et al.
Plos Genetics|September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsClaire S Leblond, Caroline Nava, Anne Polge, et al.
Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Human Genetics|November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsJuliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Pageof 25

Showing results (241-250 of 247) with videos related to

Sort By:
Pageof 25
You have reached the last page of results.This site can display upto 247 results.
Plos Genetics|February 21, 2012
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disordersClaire S Leblond, Jutta Heinrich, Richard Delorme, et al.
Plos Genetics|September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsClaire S Leblond, Caroline Nava, Anne Polge, et al.
Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Human Genetics|November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsJuliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Pageof 25