Kolexia
Molin Arnaud
Génétique médicale
Hôpital Côte de Nacre
Caen, France
83 Activités
140 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Hypercalcémie Rachitisme Pseudohypoparathyroïdie Néphrocalcinose Hypercalciurie Rachitisme hypophosphatémique familial Hypersensibilité Calculs rénaux Néphrolithiase

Industries

Kyowa Kirin
1 collaboration(s)
Dernière en 2020
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Kidney international   14 février 2024
Quantitative expression assay of GNAS gene: a reliable functional analysis in various clinical and molecular situations
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
American journal of medical genetics. Part A   26 octobre 2023
Reassuring data on the cardiovascular risk in adults with X-linked hypophosphatemia receiving conventional therapy.
The Journal of clinical endocrinology and metabolism   16 octobre 2023
INTERVIEW Arnaud MOLIN CEO de @‌champmarket.paris a accepté de ...
Facebook   13 septembre 2023
FLUCOLITH: Multicenter, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Fluconazole in Hypercalcicuric Patients With Increased 1.25(OH) 2D Levels
Essai Clinique (Hospices Civils de Lyon)   31 août 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023
The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
iPPSD, les pathologies de l’inactivation de la signalisation PTH/PTHrP (anciennement pseudohypoparathyroïdies et maladies associées)
HAS Publications   23 mars 2023