खोज परिणाम - Lap‐Chee Tsui
- प्रदर्शित 1 - 20 परिणाम 32
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A suggested nomenclature for designating mutations द्वारा Arthur L. Beaudet, Lap‐Chee Tsui
प्रकाशित 1993Artigo -
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Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome द्वारा Xavier Estivill, Joseph Cheung, Miguel Angel Pujana, Kazuhiko Nakabayashi, Stephen W. Scherer, Lap‐Chee Tsui
प्रकाशित 2002Artigo -
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The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF<sub>508</sub>) द्वारा Eitan Kerem, Mary Corey, Batsheva Kerem, Johanna M. Rommens, D. Markiewicz, Henry Levison, Lap‐Chee Tsui, Peter R. Durie
प्रकाशित 1990Artigo -
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Paraoxonase-2 Gene (<i>PON2</i>) G148 Variant Associated with Elevated Fasting Plasma Glucose in Noninsulin-Dependent Diabetes Mellitus<sup>1</sup> द्वारा Robert A. Hegele, Philip W. Connelly, Stephen W. Scherer, Anthony J. Hanley, Stewart B. Harris, Lap‐Chee Tsui, Bernard Zinman
प्रकाशित 1997Artigo -
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Molecular Cytogenetic Delineation of Deletions and Translocations Involving Chromosome Band 7q22 in Myeloid Leukemias द्वारा Konstanze Fischer, Stefan Fröhling, Stephen W. Scherer, Jill M. Brown, Claudia Scholl, Stephan Stilgenbauer, Lap-Chee Tsui, Peter Lichter, Hartmut Döhner
प्रकाशित 1997Artigo -
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Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and<b><i>In Vivo</i></b>Transepithelial Potentials द्वारा Michael Wilschanski, Annie Dupuis, Lynda Ellis, Keith Jarvi, Julian Zielenski, Elizabeth Tullis, Sheelagh Martin, Mary Corey, Lap‐Chee Tsui, Peter R. Durie
प्रकाशित 2006Artigo -
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Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions द्वारा Paul Linsdell, Joseph A. Tabcharani, Johanna M. Rommens, Yue-xian Hou, Xiu-Bao Chang, Lap-Chee Tsui, John R. Riordan, John W. Hanrahan
प्रकाशित 1997Artigo -
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A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation द्वारा Isabel Aznarez, Yoseph Barash, Ofer Shai, David He, Julian Zielenski, Lap‐Chee Tsui, John Parkinson, Brendan J. Frey, Johanna M. Rommens, Benjamin J. Blencowe
प्रकाशित 2008Artigo -
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Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development द्वारा Michael A. Crackower, Stephen W. Scherer, Johanna M. Rommens, Chi Chung Hui, Parvoneh Poorkaj, Sylvia Soder, Jan Maarten Cobben, Louanne Hudgins, James P. Evans, Lap Chee Tsui
प्रकाशित 1996Artigo -
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Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis द्वारा Wanda K. Lemna, Gerald L. Feldman, Batsheva Kerem, Susan Fernbach, Elaine P. Zevkovich, William E. O’Brien, John R. Riordan, Francis S. Collins, Lap‐Chee Tsui, Arthur L. Beaudet
प्रकाशित 1990Artigo
खोज साधन:
संबंधित विषय
Biology
Gene
Genetics
Cystic fibrosis
Medicine
Internal medicine
Genotype
Molecular biology
Allele
Chromosome
Cystic fibrosis transmembrane conductance regulator
Mutation
Biochemistry
Computational biology
Genome
Mutant
DNA
Human genome
Pancreas
Pancreatic disease
Pathology
Sequence (biology)
Single-nucleotide polymorphism
Disease
Endocrinology
Haplotype
Locus (genetics)
Population
Amino acid
Arginine