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List of works by Raymond J Louie

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

scientific article published on 08 December 2019

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

scientific article published on 23 May 2019

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

scientific article

Schimke XLID syndrome results from a deletion in BCAP31

scientific article published on 18 July 2020

Two unrelated patients with autosomal dominant omodysplasia and mutations

scientific article published on 15 October 2018

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