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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.
Agenesis of the corpus callosum in California 1983-2003: a population-based study.
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic.
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.
Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.
Clinical features and management issues in Mowat-Wilson syndrome.