Kolexia
Gorokhova Svetlana Génétique médicale
Gorokhova Svetlana
Génétique médicale
Hôpital La Timone Enfants
Marseille, France
83 Activités
444 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Dystrophies musculaires Dystrophies musculaires des ceintures Maladies neuromusculaires Myopathies distales Malformations multiples Syndromes myasthéniques congénitaux Maladies génétiques congénitales Myopathie de Duchenne

Collaborateurs

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Krahn Martin
Krahn Martin
Hôpital La Timone Enfants, Marseille, France
Cerino Mathieu
Cerino Mathieu
Hôpital La Conception, Marseille, France
Levy Nicolas
Levy Nicolas
Institut De Recherches Internationales Servier, Suresnes, France
Attarian Shahram
Attarian Shahram
Hôpital La Timone, Marseille, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2023
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Dernières activités

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The evolving challenges of congenital titinopathies: late miscarriages, syndromic phenotypes, and “false” canonical exons
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Frontiers in genetics   13 décembre 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023
P236 Rod-less dystrophin may exert a dominant negative effect by interfering with utrophin's function
Neuromuscular disorders : NMD   01 octobre 2023
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.
Med (New York, N.Y.)   10 mars 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical Genetics   05 mars 2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
Journal of medical genetics   27 février 2023
P-120 | Prenatal and postnatal phenotypes of Coffin-Siris syndrome: Two very different sides of the same coin
Abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, 19–23 June 2022   03 janvier 2023
O.12 Novel functional test to distinguish between variants causing dominant and recessive forms of calpainopathy
Neuromuscular disorders : NMD   01 octobre 2022