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• An Epidemiologic Study of Orofacial Clefts with Other Birth Defects in Victoria, Australia  Academic Article
• Characterization of speech and language phenotype in children with NRXN1 deletions  Academic Article
• Clinical involvement and protein expression in individuals with theFMR1 premutation  Academic Article
• Congenital malformations in Victoria, Australia, 1983–95: An overview of infant characteristics  Academic Article
• Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions  Academic Article
• Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy  Academic Article
• Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development  Academic Article
• Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin  Academic Article
• Grainyhead-like Transcription Factors in Craniofacial Development  Academic Article
• Mesomelic dwarfism Langer type associated to mixed gonadal dysgenesis, with karyotype 46,XY/45 X  Academic Article
• Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome  Academic Article
• PROBABLE CASE OF 8Q TRISOMY  Academic Article
• Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12  Academic Article
• Survival into adulthood of patients with atrial isomerism undergoing cardiac surgery  Academic Article
• The X-ray Crystal Structure of Mannose-binding Lectin-associated Serine Proteinase-3 Reveals the Structural Basis for Enzyme Inactivity Associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) Syndrome  Academic Article
• Visual function in velocardiofacial syndrome  Conference Paper
• Windows on other worlds: The rise and fall of Sideshow Alley (Australia, fairs)  Academic Article