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Molecular Genetics and Metabolism
|
October 5, 2013
Creatine and guanidinoacetate reference values in a French population
Marie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.
Journal of Inherited Metabolic Disease
|
June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
Journal of Inherited Metabolic Disease
|
August 9, 2016
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
Bone Marrow Transplantation
|
December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Antoine Gardin, Martin Castelle, Samia Pichard, et al.
Neurology. Genetics
|
July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Agnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Annals of Clinical and Translational Neurology
|
August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
Neurology
|
January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Emmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
Journal of Comparative Effectiveness Research
|
August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Craig Campbell, Richard J Barohn, Enrico Bertini, et al.
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of 15
Search research articles
Search
Showing results (121-130 of 147) with videos related to
Sort By:
Page
of 15
Molecular Genetics and Metabolism
|
October 5, 2013
Creatine and guanidinoacetate reference values in a French population
Marie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.
Journal of Inherited Metabolic Disease
|
June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
Journal of Inherited Metabolic Disease
|
August 9, 2016
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
Bone Marrow Transplantation
|
December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Antoine Gardin, Martin Castelle, Samia Pichard, et al.
Neurology. Genetics
|
July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Agnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Annals of Clinical and Translational Neurology
|
August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
Neurology
|
January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Emmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
Journal of Comparative Effectiveness Research
|
August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Craig Campbell, Richard J Barohn, Enrico Bertini, et al.
Page
of 15