スポンサーリンク
Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences | 論文
- Identification of Water Molecules in Low Humidity and Possibility of Quantitative Gas Analysis using Porous Silicon Gas Sensor
- Gas Identification by a Single Gas Sensor using Porous Silicon as the Sensitive Material
- PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
- The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
- A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
- Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
- Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
- A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
- A Japanese patient with a mild Lenz-Majewski syndrome
- Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
- The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
- Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
- Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
- 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 (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid