5 results on '"Shoichet, Sarah A."'
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2. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
3. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
4. Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy
5. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
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