Kolexia
Krahn Martin Génétique médicale
Krahn Martin
Génétique médicale
Hôpital La Timone Enfants
Marseille, France
107 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Dystrophies musculaires des ceintures Dystrophies musculaires Myopathies distales Maladies neuromusculaires Prédisposition génétique à une maladie Amyotrophie Maladies génétiques congénitales Maladies des dents

Collaborateurs

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Levy Nicolas
Levy Nicolas
Institut De Recherches Internationales Servier, Suresnes, France
Cerino Mathieu
Cerino Mathieu
Hôpital La Conception, Marseille, France
Gorokhova Svetlana
Gorokhova Svetlana
Hôpital La Timone Enfants, Marseille, France
Bartoli Michel
Bartoli Michel
Hôpital La Timone, Marseille, France

Industries

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EXAFIELD
1 collaboration(s)
Dernière en 2022
Sanofi
1 collaboration(s)
Dernière en 2023
Pfizer
1 collaboration(s)
Dernière en 2023
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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APOGeE launch: a European medical genetics e-textbook by ERN-ITHACA
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
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.
Biomedicines   13 mai 2023
APOGeE (A Practical Online Genetics e-Education): a European medical genetics e-textbook by ERN-ITHACA
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
O.12 Novel functional test to distinguish between variants causing dominant and recessive forms of calpainopathy
Neuromuscular disorders : NMD   01 octobre 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
International journal of molecular sciences   31 juillet 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Genes   19 juillet 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Genes   16 juin 2022
Developing an e-learning tool on medical genetics: APOGeE Project (A Practical Online Genetics e-Education)
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022