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Barbara Plecko

Showing results (91-100 of 113) with videos related to

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Journal of Medical Genetics|April 10, 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, et al.
JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Journal of Neuromuscular Diseases|November 21, 2019
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1Astrid Pechmann, Matthias Baumann, Günther Bernert, et al.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studySorina M Papuc, Lucia Abela, Katharina Steindl, et al.
Pageof 12

Showing results (91-100 of 113) with videos related to

Sort By:
Pageof 12
Journal of Medical Genetics|April 10, 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, et al.
JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Journal of Neuromuscular Diseases|November 21, 2019
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1Astrid Pechmann, Matthias Baumann, Günther Bernert, et al.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studySorina M Papuc, Lucia Abela, Katharina Steindl, et al.
Pageof 12