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Department of Human Genetics, Nagasaki University School of Medicine | 論文
- FISH MAPPING OF A TRANSLOCATION BREAKPOINT AT 6q21 (OR q22) IN A PATIENT WITH HETEROTAXIA
- 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
- Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- On the conflicting reports of imprinting status of mouse ATPIOa in the adult brain : strain-background-dependent imprinting?
- Synthesis of Carbon Nanotube/Silver Nanocomposites by Ultrasonication
- GENOMIC IMPRINTING AND ITS RELEVANCE TO GENETIC DISEASES
- 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
- Contiguous Gene Syndromes as Multiple Anomalies Syndromes : Molecular Basis and Approach to Gene Cloning
- 4 Chromosome Aberration-based Positional Cloning of Cardiovascular Disease Genes(Perspectives of Genome-wide Study to Identify Genes Underlying Cardiovascular Diseases,Roundtable Discussion 10 (RT10) (M),The 70th Anniversary Annual Scientific Meeting of t
- 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)
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