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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
UploadDe Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
UploadNovel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders
UploadCorrection: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
UploadA mutation update on the LDS-associated genesTGFB2/3andSMAD2/3
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