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Sultan Qaboos University Medical Journal|April 11, 2013
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cisRenate Marquis-Nicholson, Salim Aftimos, Donald R LovePediatric Dermatology|November 8, 2012
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndromeSaid Alkindi, Malcolm Battin, Salim Aftimos, et al.Pediatric Cardiology|February 24, 2007
Congenital aneurysm of the muscular interventricular septum in association with cardiac arrhythmias and a chromosomal abnormalitySharon H Wong, David M Coleman, Salim AftimosInternational Journal of Pediatric Otorhinolaryngology|July 28, 2009
New airway and swallow manifestations of Simpson-Golabi-Behmel syndromeEmma Glamuzina, Salim Aftimos, Melissa Keesing, et al.Journal of Child Neurology|May 2, 2008
Isolated absence of the Moro reflex in a baby with CHARGE syndrome could reflect vestibular abnormalitiesFrank H Bloomfield, Shuan Dai, David Perry, et al.European Journal of Medical Genetics|November 15, 2017
Genome-wide sequencing expands the phenotypic spectrum of EP300 variantsGregory Costain, Peter Kannu, Sarah BowdinJournal of Paediatrics and Child Health|February 22, 2011
Clinical phenotypes associated with type II collagen mutationsPeter Kannu, John Bateman, Ravi SavarirayanOrphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.The New Zealand Medical Journal|July 24, 2010
Array comparative genomic hybridisation: a new tool in the diagnostic genetic armouryRenate Marquis-Nicholson, Salim Aftimos, Ian Hayes, et al.Sultan Qaboos University Medical Journal|July 18, 2013
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental DelayRoberto L Mazzaschi, Fern Ashton, Salim Aftimos, et al.Pageof 13