Kolexia
Quelin Chloe Génétique médicale
Quelin Chloe
Génétique médicale
Hôpital Sud Rennes
Rennes, France
102 Activités
0 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Maladies foetales Holoprosencéphalie Malformations Mégalencéphalie Hypopigmentation Cardiopathies congénitales Anomalies du tube neural

Collaborateurs

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Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France
Fradin Melanie
Fradin Melanie
Hôpital Sud Rennes, Rennes, France
Pasquier Laurent
Pasquier Laurent
Hôpital Sud Rennes, Rennes, France
Loget Philippe
Loget Philippe
Hôpital Pontchaillou, Rennes, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2022
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Dernières activités

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O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Syntelencephaly (Middle interhemispheric variant): an holoprosencephaly (HPE) like the others?
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
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
European journal of medical genetics   25 septembre 2023
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.
HGG advances   13 septembre 2023
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
The Journal of clinical endocrinology and metabolism   21 août 2023
AnDDI-prenatome - the French national project of prenatal trio exome sequencing: 43% of diagnostic yield in 28 days with 80% pregnancy care changes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023