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Journal of Inherited Metabolic Disease
|
May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Human Mutation
|
May 8, 2013
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene
Aliya Ishmukhametova, Jian-Min Chen, Rafaëlle Bernard, et al.
Orphanet Journal of Rare Diseases
|
June 9, 2012
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, et al.
BMJ Open
|
October 31, 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Bénédicte Héron, Yann Mikaeloff, Roseline Froissart, et al.
Orphanet Journal of Rare Diseases
|
May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2008
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients
Cyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, et al.
Neuromuscular Disorders : NMD
|
March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
Pascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.
Mitochondrion
|
February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2
Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Human Mutation
|
September 11, 2008
TCF4 deletions in Pitt-Hopkins Syndrome
Irina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.
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of 15
Search research articles
Search
Showing results (81-90 of 147) with videos related to
Sort By:
Page
of 15
Journal of Inherited Metabolic Disease
|
May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Human Mutation
|
May 8, 2013
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene
Aliya Ishmukhametova, Jian-Min Chen, Rafaëlle Bernard, et al.
Orphanet Journal of Rare Diseases
|
June 9, 2012
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, et al.
BMJ Open
|
October 31, 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Bénédicte Héron, Yann Mikaeloff, Roseline Froissart, et al.
Orphanet Journal of Rare Diseases
|
May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2008
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients
Cyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, et al.
Neuromuscular Disorders : NMD
|
March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
Pascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.
Mitochondrion
|
February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2
Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Human Mutation
|
September 11, 2008
TCF4 deletions in Pitt-Hopkins Syndrome
Irina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.
Page
of 15