Kolexia
Lehalle Daphné
Génétique médicale
Hôpital Pitie Salpetriere
Paris, France
97 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Épilepsie Malformations multiples Faciès Microcéphalie Cardiopathies congénitales Troubles de la croissance Malformations crâniofaciales

Industries

Sobi
1 collaboration(s)
Dernière en 2016
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Prenatal exome sequencing in corpus callosum anomalies: lessons from a cohort of 209 fetuses
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
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
Growth charts in DYRK1A syndrome.
American journal of medical genetics. Part A   22 septembre 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics   14 août 2023
Diagnostic étiologique d’une déficience intellectuelle
Journal de pediatrie et de puericulture   01 juin 2023
Solo-RNA sequencing of blood combined with trio-genome sequencing decipher molecular diagnostic of Neurodevelopmental Disorders
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Genetics of anomalies of the corpus callosum: lessons from a cohort of 403 individuals
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Frontiers in genetics   20 avril 2023