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International guidelines for the management and treatment of Morquio A syndrome.
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.
Craniofacial and dental development in Costello syndrome.
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.