Browsing publications by Dr Miranda Splitt

Newcastle AuthorsTitleYear
Dr Suzy Leech
Dr Aileen Taylor
Dr Miranda Splitt
Dr Sivakumar Natarajan
Dr Neil Rajan
et al.
A novel RASA1 mutation presenting with multiple cutaneous capillary malformations2014
Dr Stamatina Verykiou
Dr Aileen Taylor
Dr Miranda Splitt
Dr Suzy Leech
Atypical presentation of Rothmund-Thomson syndrome with cafe au lait patches2014
Dr Miranda Splitt
Dr Richard Fisher
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism2014
Dr Miranda Splitt
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 52014
Dr Brian Wilson
Dr Simon Zwolinksi
Dr Miranda Splitt
A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?2012
Dr Miranda Splitt
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR12012
Dr Miranda Splitt
Genotype-phenotype analysis of the branchio-oculo-facial syndrome2011
Dr Miranda Splitt
Professor Judith Goodship
FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality2008
Dr Rob Forsyth
Dr Debbie Matthews
Michael Clarke
Dr Miranda Splitt
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism2008
Dr Miranda Splitt
Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: A new syndrome?2006
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