Kolexia
Schmitt Sebastien
Biologie médicale
Hôpital Hôtel-Dieu Nantes
Nantes, France
52 Activités
0 Followers

Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Acrodermatite Déficience intellectuelle Troubles de la croissance Ostéochondrodysplasies Prédisposition génétique à une maladie Ichtyose liée à l'X Chondrodysplasie ponctuée Microcéphalie Ichtyose

Industries

ConsuMed Research
1 collaboration(s)
Dernière en 2018
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Dernières activités

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genetics in medicine : official journal of the American College of Medical Genetics   09 juin 2022
Interest and Limits of FML-10 PET Imaging for Early Detection of Response to Conventional Chemotherapy.
Frontiers in oncology   20 décembre 2021
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
American journal of human genetics   25 août 2020
FML-10 PET imaging fails to assess early response to neoadjuvant chemotherapy in a preclinical model of triple negative breast cancer.
EJNMMI research   06 janvier 2020
Pretargeted radioimmunotherapy and SPECT imaging of peritoneal carcinomatosis using bioorthogonal click chemistry: probe selection and first proof-of-concept.
Theranostics   19 septembre 2019
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenatal diagnosis   19 août 2019
Unexpected result during preimplantation genetic diagnosis of Steinert disease
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
American journal of human genetics   13 novembre 2017
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Molecular therapy : the journal of the American Society of Gene Therapy   19 septembre 2017
Synthesis and preliminary in vivo evaluation of new Ffluoro-inositols as Positron Emission Tomography radiotracers.
Bioorganic & medicinal chemistry   22 août 2017