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Anne-Laure Mosca

Showing results (21-30 of 50) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
Archives of General Psychiatry|September 9, 2009
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationAudrey Guilmatre, Christèle Dubourg, Anne-Laure Mosca, et al.
European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.
Human Genetics|May 14, 2020
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disordersFrederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
European Journal of Medical Genetics|August 16, 2017
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesAurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, et al.
Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
Archives of General Psychiatry|September 9, 2009
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationAudrey Guilmatre, Christèle Dubourg, Anne-Laure Mosca, et al.
European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.
Human Genetics|May 14, 2020
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disordersFrederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
European Journal of Medical Genetics|August 16, 2017
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesAurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, et al.
Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.
Pageof 5