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Craniofacial and dental development in Costello syndrome.
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy.
Candidate locus analysis for PHACE syndrome.
Consanguinity and the risk of congenital heart disease.
Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort.
Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Psychosocial aspects of patients with Niemann-Pick disease, type B.
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.