551 results
Search Results
2. Genetic services in the United States
3. Precise mapping of the EGF receptor gene on the human chromosome 7p12 using an improved fish technique
4. Allelic frequencies of twelve dinucleotide repeat marker loci on chromosome 13 in the normal Japanese population
5. Direct insertion of euchromatic material from chromosome y in the x-chromosome in hypogonadotropic hypogonadisms with crohn’s disease
6. Dual-color fish analysis of breakpoints on robertsonian translocations
7. Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia
8. DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1)
9. Mitochondrial disorders
10. PCR-based genotyping of MNSs blood group: Subtyping of M allele to MG and MT
11. DNA typing of HLA in the patients with moyamoya disease
12. A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS)
13. An azoospermic male with an unbalanced autosomal-Y translocation
14. Mevalonic acidemia: First case of Japan
15. Germline mutations of the APC gene in two Japanese adenomatous polyposis patients
16. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
17. Megalocornea-mental retardation syndrome: An additional case report
18. Roles of DNA repair methyltransferase in mutagenesis and carcinogenesis
19. Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer
20. Suppression of serum-induced c-jun expression by activated Ki-ras in human colon cancer cells
21. Analysis of the first intron ofTNFB gene byNcoI RFLP in koreans
22. Distribution of abo genotypes and allele frequencies in a korean population
23. Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of theN-acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease
24. ITIH1*Q0iwate, a null allele of inter-alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation
25. The growth hormone receptor gene mutation of a japanese patient with laron syndrome
26. Human genetics: Past, present, and future, with special reference to major trends in Japan
27. Identification of an HLA-DQ6-derived peptide recognized by mouse MHC class I H-2Db-restricted CD8+ T cells in HLA-DQ6 transgenic mice
28. Assignment of the human connexin43 gene,GJA1, to chromosome 6q22.3
29. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis
30. GM and KM allotypes in eight tribal populations of madyha Pradesh and Orissa, India
31. Biparental alleles ofHLA-G are co-dominantly expressed in the placenta
32. Polymorphic and tissue-specific imprinting of the human wilms tumor gene,WT1
33. Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with leber’s hereditary optic neuropathy
34. NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean
35. Molecular basis of zellweger syndrome,β-ketothiolase deficiency and mucopolysaccharidoses
36. Detection of the CTG repeat expansion in congenital myotonic dystrophy
37. Nonketotic hyperglycinemia: Biochemical, molecular, and neurological aspects
38. Genetic polymorphism of human factor H (HF,β1H globulin) in Chinese han population in northeast China
39. Detection of aneuploidy in human spermatozoa using fluorescencein situ hybridization (FISH)
40. Molecular basis governing primary sex in mammals
41. A novelde novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTosaka)
42. Genomic imprinting and its relevance to genetic diseases
43. Autosomal dominant cerebellar ataxias in the Kinki area of Japan
44. Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy
45. Interstitial deletion of the short arm of chromosome 10: Report of a case and review of the literature
46. Mutations of theTyrosinase gene in three Korean patients with Type I oculocutaneous albinism
47. Estimation of the physical distance between major genomic markers in the Werner syndrome locus (8p 11.2-12) by dual-color fish analysis
48. A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report
49. Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases
50. Molecular characterization of an unusual variant of the short arm of chromosome 15 by FISH-technique
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