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Anne-Laure Mosca

Showing results (31-40 of 50) with videos related to

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Molecular Autism|October 31, 2025
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohortEléonore Viora-Dupont, Julian Delanne, Aurore Garde, et al.
Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityAnne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, et al.
European Journal of Human Genetics : EJHG|February 20, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Aurélien Juven, Sophie Nambot, Amélie Piton, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
Molecular Autism|October 31, 2025
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohortEléonore Viora-Dupont, Julian Delanne, Aurore Garde, et al.
Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityAnne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, et al.
European Journal of Human Genetics : EJHG|February 20, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Aurélien Juven, Sophie Nambot, Amélie Piton, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Pageof 5