Kolexia
Alessandri Jean-Luc Pédiatrie
Alessandri Jean-Luc
Pédiatrie
Hôpital Félix-Guyon
Saint-Denis, France
56 Activités
156 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Cardiopathies congénitales Anomalies morphologiques congénitales des membres Anomalies morphologiques congénitales de la main Faciès Fièvre chikungunya Malformations multiples Maladies foetales Chondrodysplasie ponctuée

Collaborateurs

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Ramful Duksha
Ramful Duksha
Hôpital Félix-Guyon, Saint-Denis, France
Doray Berenice
Doray Berenice
Hôpital Félix-Guyon, Saint-Denis, 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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GSK
1 collaboration(s)
Dernière en 2019
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Dernières activités

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Journal of medical genetics   21 septembre 2023
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Children (Basel, Switzerland)   07 avril 2023
STAC3 related congenital myopathy: A case series of seven Comorian patients.
European journal of medical genetics   25 août 2022
First Case of Acute Myocarditis Caused by Metapneumovirus in an Immunocompromised 14-year-old Girl.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine   16 juillet 2022
QUALI-21: Qualitative Exploratory Study Among Reunionese Women and Their Partners Who Have a Child With Trisomy 21
Essai Clinique (CHU La Réunion)   31 mars 2022
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Molecular genetics and metabolism reports   18 octobre 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clinical genetics   20 janvier 2021
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clinical genetics   22 juin 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Human genetics   24 janvier 2020