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