Browsing publications by Dr Miranda Splitt

Newcastle AuthorsTitleYear
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
Dr Miranda Splitt
Neonatal teeth in X-linked Opitz (G/BBB) syndrome2006
Professor Susan Lindsay
Dr Miranda Splitt
Professor Sir John Burn
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome2002
Dr Miranda Splitt
Dr Alison Trainer
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist2001
Professor Judith Goodship
Dr Miranda Splitt
Professor Matthew Wright
Autozygosity mapping of a Seckel Syndrome Locus to chromosome 3q22.1-q242000
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