List of works - Katherine Wood - Paulina

List of works by Katherine Wood

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

scientific article published on 11 September 2019

DOT1L and H3K79 Methylation in Transcription and Genomic Stability

scientific article published on 27 February 2018

Disease modeling of core pre-mRNA splicing factor haploinsufficiency

scientific article published on 01 November 2019

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

scientific article published on 25 April 2020

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

scientific article published on 31 July 2020

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