Tomita Hiroaki | Department Of Biological Psychiatry Tohoku University Graduate School Of Medicine

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著作論文

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
Effect of Chronic Lithium Treatment on Gene Expression Profile in Mouse Microglia and Brain Dendritic Cells
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
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

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