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Child Development Disorders, Pervasive
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.