List of works - James Fasham - Paulina

List of works by James Fasham

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

scientific article published on 08 January 2019

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

scientific article published on 25 August 2020

Can biochemical markers serve as surrogates for imaging in knee osteoarthritis?

scientific article published in December 2007

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

scientific article published on 20 May 2021

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

scientific article published on 29 August 2018

No association between SCN9A and monogenic human epilepsy disorders

scientific article published on 20 November 2020

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

scientific article published on 23 August 2019

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