Marguerite Hureaux

4PUBLICATIONS
0CO-AUTHORS
NeurogeneticsMedical mycologyMedical biochemistry - inorganic elements and compoundsAnalytical spectrometry
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Publications (4)

|Sep 11, 2024
Prevalence of kidney failure in adults diagnosed with hereditary tubulopathies.

Maureen Betton, Anne Blanchard, Pascal Houillier

|Apr 16, 2024
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Clarisse Billon, Giorgina Barbara Piccoli, Jean-Madeleine de Sainte Agathe

|Mar 18, 2022
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.

Alice Frerot, Véronique Baudouin, Aline Rideau-Batista

|May 06, 2021
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.

Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari

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