Kolexia
Trocme-Goldenberg Alice Pédiatrie
Trocme-Goldenberg Alice
Pédiatrie
Hôpital Charles Nicolle
Rouen, France
206 Activités
2 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Épilepsie Malformations crâniofaciales Crises épileptiques Délétion de segment de chromosome Faciès Encéphalopathies

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Amicus Therapeutics
2 collaboration(s)
Dernière en 2018
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Dernières activités

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
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
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
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
First description of likely pathogenic variants in ACTB causing Baraitser-Winter cerebrofrontofacial syndrome without intellectual disability in two generations
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
RBMX2, a novel candidate gene for an X-linked neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics   26 décembre 2023