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Louis Mandel

Showing results (181-190 of 221) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 29, 2016
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neuronsRicardos Tabet, Enora Moutin, Jérôme A J Becker, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 31, 2025
Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database studySarah Baer, Mathieu Rebert, Pauline Burger, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisFrancesca Mattioli, Elise Schaefer, Alex Magee, et al.
Genetics in Medicine Open|December 13, 2024
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndromeFlorent Colin, Pauline Burger, Timothée Mazzucotelli, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.
Molecular Psychiatry|August 15, 2018
Sex-specific impact of prenatal androgens on social brain default mode subsystemsMichael V Lombardo, Bonnie Auyeung, Tiziano Pramparo, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
Molecular Psychiatry|November 29, 2023
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeJérémie Courraud, Camille Engel, Angélique Quartier, et al.
European Journal of Human Genetics : EJHG|October 25, 2012
Dynamin 2 homozygous mutation in humans with a lethal congenital syndromeOlga S Koutsopoulos, Christine Kretz, Claudia M Weller, et al.
Pageof 23

Showing results (181-190 of 221) with videos related to

Sort By:
Pageof 23
Proceedings of the National Academy of Sciences of the United States of America|May 29, 2016
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neuronsRicardos Tabet, Enora Moutin, Jérôme A J Becker, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 31, 2025
Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database studySarah Baer, Mathieu Rebert, Pauline Burger, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisFrancesca Mattioli, Elise Schaefer, Alex Magee, et al.
Genetics in Medicine Open|December 13, 2024
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndromeFlorent Colin, Pauline Burger, Timothée Mazzucotelli, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.
Molecular Psychiatry|August 15, 2018
Sex-specific impact of prenatal androgens on social brain default mode subsystemsMichael V Lombardo, Bonnie Auyeung, Tiziano Pramparo, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
Molecular Psychiatry|November 29, 2023
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeJérémie Courraud, Camille Engel, Angélique Quartier, et al.
European Journal of Human Genetics : EJHG|October 25, 2012
Dynamin 2 homozygous mutation in humans with a lethal congenital syndromeOlga S Koutsopoulos, Christine Kretz, Claudia M Weller, et al.
Pageof 23