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List of works by Séverine Drunat

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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

scientific article published on 14 June 2019
Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

scientific article published on 7 December 2017
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

scientific article published on 03 February 2020
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019
Baraitser-Winter Cerebrofrontofacial Syndrome

scientific article published on 20 November 2015
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

journal article from 'European Journal of Medical Genetics' published in 2018
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

scientific article
Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?

scientific article published on 06 February 2020
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

scientific article published on 07 November 2019
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

scientific article published on 19 January 2013
Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption

scientific article published on 19 June 2020
A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

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