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長崎大学 医歯薬学研究科人類遺伝学 | 論文
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- Renal tubular dysgenesis complicated with severe cranium hypoplasia
- LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
- On the conflicting reports of imprinting status of mouse ATPIOa in the adult brain : strain-background-dependent imprinting?
- Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
- Protein-losing enteropathy complicated with recurrent convulsions and developmental delay in a 4-month-old boy
- Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
- Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
- Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
- Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
- Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
- A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
- Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
- A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
- Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
- Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
- A Case of Basal Cell Adenocarcinoma of the Parotid Gland
- A Case of Leiomyosarcoma of the Sphenoid Sinus
- Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
- PHYSICAL MAP OF A YAC CONTIG CONTAINING THE REGION OF THE HUMAN GENE (HYRC) COMPLEMENTING HYPER-RADIOSENSITIVITY OF THE SCID MOUSE MUTATION