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Anne de Saint-Martin

Showing results (61-70 of 80) with videos related to

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Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, et al.
American Journal of Human Genetics|December 20, 2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathySamira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Pageof 8

Showing results (61-70 of 80) with videos related to

Sort By:
Pageof 8
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, et al.
American Journal of Human Genetics|December 20, 2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathySamira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
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