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Browsing publications by Dr Miranda Splitt

Newcastle AuthorsTitleYearFull text
Dr Tara Montgomery
Dr Miranda Splitt
Dr Arjan De Brouwer
De novo and biallelic DEAF1 variants cause a phenotypic spectrum2019
Dr Miranda Splitt
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort2018
Dr Miranda Splitt
Extending the phenotype associated with the CSNK2A1-related Okur–Chung syndrome—A clinical study of 11 individuals2018
Dr Gareth Waring
Dr Miranda Splitt
Professor Stephen Robson
Fetal hydrops: Diagnosis and prognosis2018
Dr Ruairidh Martin
Dr Majid Arefi
Dr Miranda Splitt
Lisa Redford
Dr Neil Rajan
et al.		Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation2018
Dr Miranda Splitt
Dr Michael Wright
Quantifying the contribution of recessive coding variation to developmental disorders2018
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
et al.		Prevalence and architecture of de novo mutations in developmental disorders2017
Dr Miranda Splitt
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP12017
Dr Miranda Splitt
A case on the PIK3CA-related overgrowth spectrum2016
Dr Majid Arefi
Dr Miranda Splitt
Dr Suzy Leech
Dr Sivakumar Natarajan
Dr Neil Rajan
et al.		Dry Skin and Blistering in Childhood2016
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