DOI Hiroshi | Department of Human Genetics, Yokohama City University Graduate School of Medicine

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De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5

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