551 results
Search Results
52. A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia
53. Overview of the human genome project in Japan
54. Incidence of peroxisomal disorders in Japan
55. Histo-blood group lewis genotyping from human hairs and blood
56. Application of DNA markers to clinical genetics
57. Detection of chromosomal abnormalities of chromosome 12 in uterine leiomyoma using fluorescencein situ hybridization
58. Congenital bilateral perisylvian syndrome: First report in a Japanese patient
59. Assignment of the gene encoding type 1γ protein phosphatase catalytic subunit (PPP1CC) on human, rat, and mouse chromosomes
60. Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation
61. Retrieval of aneuploidy by fish-technique in a case with 46,XX/47,XXX/47,XX,+8
62. High-resolution chromosome R-banding in lymphoblastoid cell lines by the combined use of cell synchronization and ethidium bromide treatment
63. Somatic cell heterogeneity between DNA extracted fromllymphocytes and skeletal muscle in congenital myotonic dystrophy
64. Anal atresia: Effect of smoking and drinking habits during pregnancy
65. Cosmids and transcribed sequences from chromosome 11q23
66. Linkage and haplotype analysis of familial early-onset Alzheimer disease in Japanese population
67. Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa
68. Cot-1 banding of human chromosomes using fluorescencein situ hybridization with Cy3 labeling
69. A patient with Schinzel-Giedion syndrome and a review of 20 patients
70. C to T transition at the first nucleotide of codon 63 of the β-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy
71. Molecular analysis of extracellular-superoxide dismutase gene associated with high level in serum
72. Identification of iso(18p) marker chromosome by fluorescencein situ hybridization with single-copy DNA probe
73. Spinocerebellar ataxia 1 (SCA1) in the Japanese: Analysis of CAG trinucleitide repeat expansion and instability of the repeat for paternal transmission
74. Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions
75. DNA fingerprinting involving fluorescence-labeled termini of any enzymatically generated fragments of DNA
76. Carrier detection of Werner's syndrome using a microsatellite that exhibits linkage disequilibrium with the Werner's syndrome locus
77. Chromosome 1q terminal deletion resulting fromde novo translocation with an acrocentric chromosome
78. Genomic structure and chromosomal localization of processed pseudogenes for human RBP-Jk
79. Fluorescencein situ hybridization analysis of chromosomal localization of three human cytochrome P450 2C genes (CYP2C8, 2C9, and 2C10) at 10q24.1
80. A Y-associated allele is shared among a few ethnic groups of Asia
81. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: Linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)
82. Characteristics of dynamic mutation in Japanese myotonic dystrophy
83. Apolipoprotein E5 and E7 in apparently healthy Japanese males: Frequencies and relation to plasma lipid levels
84. A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy
85. Paracentric inversion of chromosome 14: A case report
86. O-gene detection by allele specific amplification in the ABO blood group system
87. Molecular analysis of a patient with Beckwith-Wiedemann syndrome, rhabdomyosarcoma and renal cell carcinoma
88. Evolutionary conservation of chymotrypsinogen gene: Genomic analysis and protein modeling
89. Asphyxiating thoracic dystrophy: Surgical correction and 2-year follow-up in a girl
90. Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescencein situ hybridization
91. Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome
92. A family with pericentric inversion of chromosome 12
93. Familial hyperextensible proximal interphalangeal joints
94. Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis
95. A mathematically designed STS primer without any mismatches for direct sequencing of cosmid DNA clones
96. Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: A point mutation at the consensus region of RNA splicing (HPRTKEIO)
97. Construction of radiation-reduced hybrids and their use in mapping of microclones from chromosome 10p11.2-q11.2
98. Steroid sulfatase deficiency in Japanese patients: Characterization of X-linked ichthyosis by using polymerase chain reaction
99. Isolation and mapping of microsatellites from a library microdissected from the Werner syndrome region, 8p11.2–p22
100. Genomic cloning and partial characterization of human chymotrypsinogen gene
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