Kolexia
Hureaux Marguerite
Biologie médicale
Hôpital Européen Georges Pompidou
Paris, France
38 Activités
195 Followers

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{{person.topmesh1.name}} Hypercalcémie Syndrome de Gitelman Hypertension artérielle Pseudohypoaldostéronisme Néphrocalcinose Hypercalciurie Insuffisance rénale chronique Insuffisance rénale Alcalose

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Dernières activités

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Archives of medical research   27 juillet 2023
#2568 LONG-READ SEQUENCING IDENTIFIES NOVEL PATHOGENIC INTRONIC VARIANTS IN GITELMAN SYNDROME
60th ERA Congress, 15-18 June 2023: Congress Abstracts   14 juin 2023
Major advances in pediatric nephro-genetics.
Medecine sciences : M/S   21 mars 2023
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association   03 mars 2023
New advances in endocrine hypertension: from genes to biomarkers.
Kidney international   13 janvier 2023
Mechanisms of paracellular transport of magnesium in intestinal and renal epithelia.
Annals of the New York Academy of Sciences   09 janvier 2023
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Scientific reports   03 janvier 2023
Genetic basis of nephrogenic diabetes insipidus.
Molecular and cellular endocrinology   30 novembre 2022
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Journal of the American Society of Nephrology : JASN   09 novembre 2022
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.
Prenatal diagnosis   23 mars 2022