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Molecular diagnosis of 405 individuals with autism spectrum disorder
UploadA novel CUL4B splice site variant in a young male exhibiting less pronounced features
Download from www.nature.comCongenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7
Download from www.nature.comSiblings with optic neuropathy and RTN4IP1 mutation
Download from www.nature.comTemple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
Download from www.nature.comNovel MCA/ID syndrome with ASH1L mutation
Download from api.wiley.comProbability curves for predicting symptom severity during an oral food challenge with wheat
Download from doi.orgTUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis
Download from www.nature.comClinical and neuroimaging findings in children with posterior reversible encephalopathy syndrome
Download from www.researchgate.netProbability curves for predicting symptom severity during oral food challenge with milk
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