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NIMA-Interacting Peptidylprolyl Isomerase
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Dobyns, William
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Dobyns, William
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Family Health
Academic Article
Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article
The molecular landscape of ASPM mutations in primary microcephaly.
Academic Article
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Academic Article
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Academic Article
Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Academic Article
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
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Family Health