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Vincent Laugel

Showing results (71-80 of 111) with videos related to

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Therapie|January 1, 2026
Dominique Deplanque, Ariane Galaup, Christine Trillou, et al.
Plos One|July 27, 2018
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA studyAurélie Chabanon, Andreea Mihaela Seferian, Aurore Daron, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Neuromuscular Disorders : NMD|January 29, 2025
Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B)Bettina C Henzi, Niveditha Putananickal, Simone Schmidt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Prenatal Diagnosis|November 19, 2016
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic featuresMarguerite Miguet, Julien Thevenon, Vincent Laugel, et al.
Neuromuscular Disorders : NMD|February 15, 2026
Safety and efficacy of tamoxifen in patients with duchenne muscular dystrophy: open label extension of TAMDMD trialGaëtan Zwingli, Niveditha Putananickal, Simone Schmidt, et al.
Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.
Pageof 12

Showing results (71-80 of 111) with videos related to

Sort By:
Pageof 12
Therapie|January 1, 2026
Dominique Deplanque, Ariane Galaup, Christine Trillou, et al.
Plos One|July 27, 2018
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA studyAurélie Chabanon, Andreea Mihaela Seferian, Aurore Daron, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Neuromuscular Disorders : NMD|January 29, 2025
Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B)Bettina C Henzi, Niveditha Putananickal, Simone Schmidt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Prenatal Diagnosis|November 19, 2016
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic featuresMarguerite Miguet, Julien Thevenon, Vincent Laugel, et al.
Neuromuscular Disorders : NMD|February 15, 2026
Safety and efficacy of tamoxifen in patients with duchenne muscular dystrophy: open label extension of TAMDMD trialGaëtan Zwingli, Niveditha Putananickal, Simone Schmidt, et al.
Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.
Pageof 12