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Browsing publications by Dr Miranda Splitt

Newcastle AuthorsTitleYearFull text
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 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 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
Dr Miranda Splitt
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome2016
Dr Miranda Splitt
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain2016
Dr Miranda Splitt
Dr Neil Rajan
Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation2016
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