Kolexia
Saugier-Veber Pascale Pharmacien
Saugier-Veber Pascale
Pharmacien
Hôpital Charles Nicolle
Rouen, France
101 Activités
1 Followers
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Hydrocéphalie Prédisposition génétique à une maladie Amyotrophie spinale Atrophie Polyendocrinopathies auto-immunes Délétion de segment de chromosome Amyotrophie Malformations multiples

Collaborateurs

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Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Nicolas Gael
Nicolas Gael
Hôpital Charles Nicolle, Rouen, France
Lecoquierre Francois
Lecoquierre Francois
Hôpital Charles Nicolle, Rouen, France
Frebourg Thierry
Frebourg Thierry
Hôpital Charles Nicolle, Rouen, France

Industries

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Novartis
5 collaboration(s)
Dernière en 2023
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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
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Scientific reports   04 mars 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
A syndrome can hide another: a case of Tay-Sachs disease associated with Prader-Willi syndrome secondary to maternal uniparental disomy of chromosome 15
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
Rare loss-of-function variants in DOCK4 lead to neurodevelopmental delay
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
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain : a journal of neurology   02 juin 2023
Contribution of non-coding de novo NIPBL variants to Cornelia de Lange syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Assessment of the transcriptomic consequences of NIPBL pathogenic variants in edited induced pluripotent stem cells
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023