Kolexia
Collet Corinne Pharmacien
Collet Corinne
Pharmacien
Hôpital Necker Enfants Malades
Paris, France
147 Activités
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{{person.topmesh1.name}} Craniosynostoses Ostéoporose Ostéopétrose Dysostose craniofaciale Dégénérescence hépatolenticulaire Acrocéphalosyndactylie Ostéosclérose Dysostose mandibulofaciale Faciès

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Cohen-Solal Martine-Esther
Cohen-Solal Martine-Esther
Hôpital Lariboisière, Paris, France
Launay Jean-Marie
Launay Jean-Marie
Hôpital Lariboisière, Paris, France
Di Rocco Federico
Di Rocco Federico
Hôpital Femme Mère Enfant, Bron, France
Arnaud Eric
Arnaud Eric
Hôpital Necker Enfants Malades, Paris, France

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Dernières activités

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Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Clinical genetics   22 février 2024
AI-based diagnosis and phenotype – Genotype correlations in syndromic craniosynostoses
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery   05 février 2024
The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis.
Biomolecules   23 janvier 2024
Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Bone   31 octobre 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Genetics in medicine : official journal of the American College of Medical Genetics   17 octobre 2023
Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research   15 septembre 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genetics in medicine : official journal of the American College of Medical Genetics   05 mai 2023
Pathogenic variants in the paired-related homeobox 1 (PRRX1) gene are associated with craniosynostosis
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
LRP4 intracellular variant may lead to high bone mass with bone fragility: a functional analysis
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.
Rheumatology (Oxford, England)   06 avril 2023