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List of works by Séverine Clauin

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

scientific article published on 09 April 2020

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

scientific article published on 12 February 2004

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

scientific article published on 18 June 2018

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

scientific article

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

scientific article published on February 2009

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