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BMJ Case Reports|August 16, 2015
Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratomaNishant Banait, Alan Fenton, Miranda SplittClinical Dysmorphology|June 9, 2006
Neonatal teeth in X-linked Opitz (G/BBB) syndromeAdam Shaw, Cheryl Longman, Melita Irving, et al.Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS|August 21, 2007
22q11 Deletion in children with cleft lip and palate--is routine screening justified?Muhammad Asim Bashir, Peter D Hodgkinson, Tara Montgomery, et al.Journal of the American College of Cardiology|September 6, 2003
Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiographyHarinder K Gill, Miranda Splitt, Gurleen K Sharland, et al.European Journal of Human Genetics : EJHG|June 17, 2018
SET de novo frameshift variants associated with developmental delay and intellectual disabilitiesRuth Richardson, Miranda Splitt, Ruth Newbury-Ecob, et al.European Journal of Human Genetics : EJHG|September 27, 2003
Class II neocentromeres: a putative common neocentromere site in band 4q21.2Pamela C Warburton, Julian Barwell, Miranda Splitt, et al.European Journal of Medical Genetics|March 26, 2022
Mosaicism in Hartsfield syndromeElizabeth Harris, Ruth Richardson, Srinivas Annavarapu, et al.American Journal of Human Genetics|March 9, 2002
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndromeSabine M Klauck, Susan Lindsay, Kim S Beyer, et al.American Journal of Medical Genetics. Part A|February 12, 2009
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcificationsNomazulu Dlamini, Miranda Splitt, Anne Durkan, et al.European Journal of Human Genetics : EJHG|August 25, 2011
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1Rebecca L Poole, Donald J Leith, Louise E Docherty, et al.Pageof 5