194 results on '"Tsui, Lap-Chee"'
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2. Severe Acute Respiratory Syndrome Coronavirus-Like Virus in Chinese Horseshoe Bats
3. Human Chromosome 7: DNA Sequence and Biology
4. Molecular Characterization of a Common Fragile Site (FRA7H) on Human Chromosome 7 by the Cloning of a Simian Virus 40 Integration Site
5. Regulation of Meiotic Chromatin Loop Size by Chromosomal Position
6. Genome-Wide Association Study Identifies NRG1 as a Susceptibility Locus for Hirschsprung's Disease
7. A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
8. Identification of the Cystic Fibrosis Gene: Genetic Analysis
9. Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
10. Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
11. Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker
12. γ -crystallin Family of the Mouse Lens: Structural and Evolutionary Relationships
13. Phosphatase Inhibitors Activate Normal and Defective CFTR Chloride Channels
14. Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene
15. High-Resolution Mapping of Mammalian Genes by In situ Hybridization to Free Chromatin
16. Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
17. Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency
18. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
19. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
20. Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis
21. Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice
22. Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice
23. Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to Chromosome 16 but is distinct from the lpd (lipid defect) locus
24. Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice
25. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
26. A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1
27. Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping
28. Gene structure of the human MET proto-oncogene
29. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
30. Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas
31. Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials
32. Organization of heterologous DNA inserts on the mouse meiotic chromosome core
33. Mapping the midkine family of developmentally regulated signaling molecules
34. Modes of DAPI banding and simultaneous in situ hybridization
35. Altered expression and deletion of RMO1 in osteosarcoma
36. Characterization of the segmental duplication LCR7-20 in the human genome
37. Genetic Ablation: Targeted Expression of a Toxin Gene Causes Microphthalmia in Transgenic Mice
38. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
39. Methods for analysis of multiple cystic fibrosis mutations
40. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
41. Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans
42. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
43. Glucose intolerance in children with cystic fibrosis
44. Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree
45. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
46. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
47. Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes
48. Regulated Expression of the Human CFTR Gene in Epithelial Cells
49. Cystic Fibrosis Gene Mutation in Two Sisters with Mild Disease and Normal Sweat Electrolyte Levels
50. Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease
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