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Christophe Philippe

Showing results (41-50 of 150) with videos related to

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Neuromuscular Disorders : NMD|September 8, 2004
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centreSylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variantsFrançois Lecoquierre, Yannis Duffourd, Antonio Vitobello, et al.
Molecular Genetics & Genomic Medicine|March 23, 2022
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, et al.
Mitochondrion|December 12, 2022
UQCRC2-related mitochondrial complex III deficiency, about 7 patientsClaire Bansept, Pauline Gaignard, Elise Lebigot, et al.
Brain : a Journal of Neurology|September 16, 2008
Key clinical features to identify girls with CDKL5 mutationsNadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.
Journal of Medical Genetics|October 27, 2012
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsyJean-Benoît Courcet, Laurence Faivre, Perrine Malzac, et al.
Epilepsia|February 13, 2008
The three stages of epilepsy in patients with CDKL5 mutationsNadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, et al.
Disease Models & Mechanisms|February 22, 2023
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiencyRoberto Oleari, Antonella Lettieri, Stefano Manzini, et al.
Pageof 15

Showing results (41-50 of 150) with videos related to

Sort By:
Pageof 15
Neuromuscular Disorders : NMD|September 8, 2004
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centreSylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variantsFrançois Lecoquierre, Yannis Duffourd, Antonio Vitobello, et al.
Molecular Genetics & Genomic Medicine|March 23, 2022
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, et al.
Mitochondrion|December 12, 2022
UQCRC2-related mitochondrial complex III deficiency, about 7 patientsClaire Bansept, Pauline Gaignard, Elise Lebigot, et al.
Brain : a Journal of Neurology|September 16, 2008
Key clinical features to identify girls with CDKL5 mutationsNadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.
Journal of Medical Genetics|October 27, 2012
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsyJean-Benoît Courcet, Laurence Faivre, Perrine Malzac, et al.
Epilepsia|February 13, 2008
The three stages of epilepsy in patients with CDKL5 mutationsNadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, et al.
Disease Models & Mechanisms|February 22, 2023
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiencyRoberto Oleari, Antonella Lettieri, Stefano Manzini, et al.
Pageof 15