Kolexia
Bruel Amandine Pédiatrie
Bruel Amandine
Pédiatrie
Cabinet libéral
Vic-le-Comte, France
34 Activités
0 Followers
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{{person.topmesh1.name}} Déficience intellectuelle Malformations Hypertension artérielle Syndrome de Rett Chromothripsis Maladies rares Pseudohypoaldostéronisme Dysplasie fibromusculaire {{person.topmesh10.name}}

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Tran Mau Them Frederic
Tran Mau Them Frederic
Hôpital François Mitterrand, Dijon, France
Thevenon Julien
Thevenon Julien
Hôpital Nord Grenoble, La Tronche, France

Industries

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MSD
1 collaboration(s)
Dernière en 2023
Sanofi
1 collaboration(s)
Dernière en 2023
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Dernières activités

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Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.
American journal of medical genetics. Part A   12 septembre 2023
OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis
Abstracts of the 31st World Congress on Ultrasound in Obstetrics and Gynecology, 15–17 October 2021, Virtual   14 octobre 2021
Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
the clinical and molecular spectrum of the novel CYFIP2 -related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
A homozygous WDR91 nonsense variant responsible of severe form of 3C syndrome
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
The French exome sequencing study in prenatal diagnosis: causal diagnosis identified in nearly half of fetuses
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
variants can be associated with milder phenotypes than congenital Rett syndrome
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
mutations are also associated with familial forms of intellectual disability
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020