المؤلفون: C. Davis, J. Mickle, Ronald G. Crystal, David R. Witt, A. E. Shrimpton, Milan Macek, Garry R. Cutting, A. Shuber, Lap-Chee Tsui, Chin-Shyan Chu, C. Graham, W. E. Highsmith, S. M. Cashman, Jean A. Amos, Sheila Curristin, S. Kiesewetter

المصدر: Nature Genetics. 5:274-278

مصطلحات موضوعية: Male, Mutation rate, Cystic Fibrosis, Genotype, RNA Splicing, Molecular Sequence Data, Black People, Cystic Fibrosis Transmembrane Conductance Regulator, White People, Frameshift mutation, Ethnicity, Genetics, Humans, Suppressor mutation, Base Sequence, biology, Membrane Proteins, DNA, Phenotype, Molecular biology, Introns, Cystic fibrosis transmembrane conductance regulator, Mutation, RNA splicing, Mutation (genetic algorithm), biology.protein, Dynamic mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685c00f6c331b1a337590df78478c3e1
https://doi.org/10.1038/ng1193-274

المؤلفون: M. X. Fitzgerald, J. Hegarty, A. Martinez, M. De Arce, S. M. Cashman, S O'Brien, M G Delgado, S. M. O'mahoney

المصدر: Clinical Genetics. 42:271-272

مصطلحات موضوعية: Adult, Risk, medicine.medical_specialty, Pancreatic disease, Cirrhosis, Adolescent, Cystic Fibrosis, Gastroenterology, Cystic fibrosis, Pulmonary function testing, Liver disease, Internal medicine, Genetics, medicine, Humans, ΔF508, Genetics (clinical), business.industry, Liver Diseases, Respiratory disease, medicine.disease, Respiratory Function Tests, Endocrinology, Liver, Liver function, business, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b49b033f5540ab07b63700801cc11553
https://doi.org/10.1111/j.1399-0004.1992.tb03254.x

المؤلفون: S. M. Cashman, M G Delgado, L Byrne, A. Patino, B Denham, M. De Arce

المصدر: Journal of medical genetics. 32(12)

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Cystic Fibrosis, Databases, Factual, Genetic counseling, Population, Cystic Fibrosis Transmembrane Conductance Regulator, computer.software_genre, Cystic fibrosis, Gene Frequency, Genetics, medicine, Humans, education, Child, Survival rate, Allele frequency, Genetics (clinical), education.field_of_study, biology, Database, Incidence (epidemiology), Haplotype, Infant, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Haplotypes, Child, Preschool, Mutation, biology.protein, computer, Ireland, Microsatellite Repeats, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa914cf196098fbaa1231b9d7a75772c
https://pubmed.ncbi.nlm.nih.gov/8825927

المؤلفون: Mary-Louise Bonduelle, G. Lenoir, Inge Liebaers, Federica Sangiuolo, Luba Kalaydjieva, Isabelle Quéré, Willy Lissens, C. Lenaerts, C. Verlingue, Bruno Dallapiccola, M.P. Audrézet, H. Guillermit, N Kapranov, P. Chauveau, S. M. Cashman, N Canki Klain, Claude Férec, G. Novelli, Bernard Mercier, M. De Arce, G. Rault

المصدر: Genomics. 16(1)

مصطلحات موضوعية: Genetics, Chromosome 7 (human), Mutation, Base Sequence, Cystic Fibrosis, DNA Mutational Analysis, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Membrane Proteins, DNA, Exons, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Cystic fibrosis transmembrane conductance regulator, Ion Channels, Chromosome 17 (human), Transmembrane domain, Exon, medicine, biology.protein, Humans, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56bd1096199b4610c0a1d233a8d1f96
https://pubmed.ncbi.nlm.nih.gov/7683628

المؤلفون: G. D. Harper, W. C. Miller, Gary A. Carver, K. R. Aalto, S. M. Cashman, Raymond Bud Burke, G. A. Carver, Harvey M. Kelsey

المصدر: Geologic Evolution of the Northernmost Coast Ranges and Western Klamath Mountains, California: Galice, Oregon to Eureka, California July 20–28, 1989

مصطلحات موضوعية: Tectonics, Seismology, Geology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::88ce36f6f09f3b6e5dd48b8963858c46
https://doi.org/10.1029/ft308p0064

المؤلفون: P. H. Cashman, S. M. Cashman

المصدر: Geologic Evolution of the Northernmost Coast Ranges and Western Klamath Mountains, California: Galice, Oregon to Eureka, California July 20–28, 1989

مصطلحات موضوعية: Schist, Geochemistry, Key (lock), Metamorphism, Petrology, Geology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0332c93b11d0cf1f6a812365126dbcde
https://doi.org/10.1029/ft308p0053