Kolexia
Duban-Bedu Bénédicte Biologie médicale
Duban-Bedu Bénédicte
Biologie médicale
Hôpital Saint Vincent de Paul Lille
Lille, France
39 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Épilepsie Encéphalopathies Duplication chromosomique Disomie uniparentale Trisomie Obésité Faciès

Collaborateurs

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Delobel Bruno
Delobel Bruno
Hôpital Saint Vincent de Paul Lille, Lille, France
Andrieux Joris
Andrieux Joris
Hôpital Jeanne de Flandre, Lille, France
Keren Boris
Keren Boris
Hôpital Pitie Salpetriere, Paris, France
Vincent-Delorme Catherine
Vincent-Delorme Catherine
Centre Hospitalier de Arras, Arras, France

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Dernières activités

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Systematic analysis and prediction of genes associated with disorders on chromosome X
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Nature communications   02 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
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genetics in medicine : official journal of the American College of Medical Genetics   11 février 2022
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
European journal of medical genetics   17 juillet 2020
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Neurogenetics   10 décembre 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
duplications including NFIX cause intellectual disability, growth retardation and microcephaly: a reversed Sotos syndrome-2?
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
American journal of human genetics   09 mai 2019