Kolexia
Delobel Bruno
Biologie médicale
Hôpital Saint Vincent de Paul Lille
Lille, France
62 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Épilepsie Malformations multiples Faciès Prédisposition génétique à une maladie Trisomie Microcéphalie Obésité

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Dernières activités

Growth charts in DYRK1A syndrome.
American journal of medical genetics. Part A   22 septembre 2023
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.
European journal of medical genetics   20 décembre 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clinical genetics   25 avril 2022
Understanding the new BRD4 -related Cornelia de Lange-like syndrome: clinical, genomic and bioinformatic delineation with an international cohort study
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clinical genetics   15 décembre 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics   03 août 2021
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics   22 juin 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clinical genetics   29 mai 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Human genetics   24 janvier 2020