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長崎大学 医歯薬学総合研究科人類遺伝学 | 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
- 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
- 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
- Photoacoustic Spectra from Co Doped ZnO with Different Grain or Cluster Sizes
- The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
- PHYSICAL MAP OF A YAC CONTIG CONTAINING THE REGION OF THE HUMAN GENE (HYRC) COMPLEMENTING HYPER-RADIOSENSITIVITY OF THE SCID MOUSE MUTATION
- Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan
- Congenital diaphragmatic hernia : an evaluation of the prognostic value of the lung-to-head ratio
- Prenatal Vitamin E Treatment Improves Lung Growth in Fetal Rats with Congenital Diaphragmatic Hernia
- Histological and Immunohistochemical Analysis of Fetal Hypoplastic Lungs: Preliminary Study
- Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta
- Fetal Arterial Blood Flow Waveforms in Premature Labor and Effect of Ritodrine Infusion
- Size Effects on Photoacoustic Spectra for GaAs Fine Powder
- Photoacoustic Spectra on the Bi or Pr Doped ZnO Varistors
- Photoacoustic Spectra on the ZnO and CdO Compound Semiconductor