MS
Mardelle Schoeman

Publications (4)

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting
Article scientifique · 2021
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
Article scientifique · 2020
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency
Article scientifique · 2017
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
Article scientifique · 2017

Domaines principaux

Sciences de la santé3 Sciences de la vie et biotechnologies1

Statistiques

Consultations20
Téléchargements0