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Vincent Laugel

Showing results (51-60 of 111) with videos related to

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European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.
Journal of Medical Genetics|March 25, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndromeNadege Calmels, Elena Botta, Nan Jia, et al.
Seizure|April 6, 2025
Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2)Sarah Baer, Marie-Thérèse Abi Wardé, Marie-Aude Spitz, et al.
Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.
JAMA Network Open|October 31, 2019
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical TrialPatricia Hafner, Ulrike Bonati, Andrea Klein, et al.
Neurology. Clinical Practice|May 29, 2024
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne SyndromeGeetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, et al.
Genetic Testing|May 13, 2008
Three new BLM gene mutations associated with Bloom syndromeMounira Amor-Guéret, Catherine Dubois-d'Enghien, Anthony Laugé, et al.
Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, 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.
Therapie|December 21, 2022
Florentia Kaguelidou, Maria Ouèdraogo, Jean-Marc Treluyer, et al.
Pageof 12

Showing results (51-60 of 111) with videos related to

Sort By:
Pageof 12
European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.
Journal of Medical Genetics|March 25, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndromeNadege Calmels, Elena Botta, Nan Jia, et al.
Seizure|April 6, 2025
Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2)Sarah Baer, Marie-Thérèse Abi Wardé, Marie-Aude Spitz, et al.
Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.
JAMA Network Open|October 31, 2019
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical TrialPatricia Hafner, Ulrike Bonati, Andrea Klein, et al.
Neurology. Clinical Practice|May 29, 2024
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne SyndromeGeetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, et al.
Genetic Testing|May 13, 2008
Three new BLM gene mutations associated with Bloom syndromeMounira Amor-Guéret, Catherine Dubois-d'Enghien, Anthony Laugé, et al.
Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, 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.
Therapie|December 21, 2022
Florentia Kaguelidou, Maria Ouèdraogo, Jean-Marc Treluyer, et al.
Pageof 12