Kolexia
Capri Yline Pédiatrie
Capri Yline
Pédiatrie
Hôpital Robert-Debré
Paris, France
135 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Syndrome de Noonan Déficience intellectuelle Microcéphalie Prédisposition génétique à une maladie Arthrogrypose Faciès Hypogonadisme Syndrome de Kallmann

Collaborateurs

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Verloes Alain
Verloes Alain
Hôpital Robert-Debré, Paris, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Perrin-Sabourin Laurence
Perrin-Sabourin Laurence
Hôpital Robert-Debré, Paris, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Harris Interactive
1 collaboration(s)
Dernière en 2020
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Dernières activités

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Hormonal Regulation of Puberty and Fertility: The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility
Essai Clinique (National Institute of Environmental Health Sciences (NIEHS))   14 mars 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
Clinical phenotype of Noonan syndrome due to RRAS2 mutations: 6 new cases and review of the literature
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
41.1 Pathogenic GABRA3 variants lead to dominant or recessive X-linked disorders depending on functional outcomes
Epilepsia Congress 2023   29 novembre 2023
Germline bi-allelic alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica   16 novembre 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Clinical genetics   11 juillet 2023
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain : a journal of neurology   02 juin 2023
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
European journal of human genetics : EJHG   13 mai 2023
Biallelic loss of function variants are responsible for neonatal systemic hypertension.
Journal of medical genetics   20 avril 2023