Kolexia
Weber Sacha
Génétique médicale
Hôpital Côte de Nacre
Caen, France
33 Activités
229 Followers

Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
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Industries

Pfizer
1 collaboration(s)
Dernière en 2023
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Dernières activités

Malattie vascolari rare non infiammatorie delle arterie cervicali
EMC - Neurologia   01 février 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences   26 janvier 2024
Further phenotypical delineation of DLG3 related Intellectual developmental disorder: description of 9 new cases
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia   22 décembre 2023
43.1 Long-term evolution of SCN8A-related conditions: focus on transition age
Epilepsia Congress 2023   29 novembre 2023
Genetics of amyotrophic lateral sclerosis.
La Revue du praticien   02 novembre 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
American journal of human genetics   18 avril 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Science advances   10 mars 2023
Two RFC1 splicing variants in CANVAS.
Brain : a journal of neurology   03 mars 2023