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Department of Human Genetics Nagasaki University School of Medicine | 論文
- 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
- Tissue specificity of methylation and expression of human genes coding for neuropeptides and their receptors, and of a human endogenous retrovirus K family
- Monozygotic Twins with Discordant Sexual Phenotypes due to Different Rations of Mosaicism of 47, X, idic(Y), idic(Y)/46, X, idic(Y)/45, X
- ASSIGNMENT OF THE HUMAN CONNEXIN43 GENE, GJA1, TO CHROMOSOME 6q22.3
- 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)
- Guidelines for genetic testing
- A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
- Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus
- THE GROWTH HORMONE RECEPTOR GENE MUTATION OF A JAPANESE PATIENT WITH LARON SYNDROME
- TWO POLYMORPHIC AvaI AND HhaI SITES IN A DIFFERENTIALLY METHYLATED REGION OF THE HUMAN H19 GENE
- Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
- 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
- Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
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