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Department Of Biological Psychiatry Tohoku University Graduate School Of Medicine | 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