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