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Results: 1-9 |
Results: 9
RAPID CHARACTERIZATION OF THE VARIABLE-LENGTH POLYTHYMIDINE TRACT IN THE CYSTIC-FIBROSIS (CFTR) GENE - ASSOCIATION OF THE 5T ALLELE WITH SELECTED CFTR MUTATIONS AND ITS INCIDENCE IN ATYPICAL SINOPULMONARY DISEASE
Authors: FRIEDMAN KJ HEIM RA KNOWLES MR SILVERMAN LM
Citation: Kj. Friedman et al., RAPID CHARACTERIZATION OF THE VARIABLE-LENGTH POLYTHYMIDINE TRACT IN THE CYSTIC-FIBROSIS (CFTR) GENE - ASSOCIATION OF THE 5T ALLELE WITH SELECTED CFTR MUTATIONS AND ITS INCIDENCE IN ATYPICAL SINOPULMONARY DISEASE, Human mutation, 10(2), 1997, pp. 108-115
BENEFITS OF TESTING FOR 70 CFTR MUTATIONS IN A CLINICAL LABORATORY USING MASDA (MULTIPLEX ALLELE-SPECIFIC DIAGNOSTIC ASSAY)
Authors: HEIM RA SUGARMAN EA MICHALOWSKY LA CATALDO NA WEBSTER JT NAPOLITANO NM REMILLARD KA PHIPPS MF HYMES DJ ALLITTO BA
Citation: Ra. Heim et al., BENEFITS OF TESTING FOR 70 CFTR MUTATIONS IN A CLINICAL LABORATORY USING MASDA (MULTIPLEX ALLELE-SPECIFIC DIAGNOSTIC ASSAY), American journal of human genetics, 61(4), 1997, pp. 1960-1960
RELATIVELY HIGH PREVALENCE OF THE CFTR MUTATIONS, G85E AND 1154INSTC
Authors: FRIEDMAN KJ BLALOCK ML HEIM RA SILVERMAN LM
Citation: Kj. Friedman et al., RELATIVELY HIGH PREVALENCE OF THE CFTR MUTATIONS, G85E AND 1154INSTC, Human mutation, 6(1), 1995, pp. 95-96
DISTRIBUTION OF 13 TRUNCATING MUTATIONS IN THE NEUROFIBROMATOSIS-1 GENE
Authors: HEIM RA KAMMORGAN LNW BINNIE CG CORNS DD CAYOUETTE MC FARBER RA AYLSWORTH AS SILVERMAN LM LUCE MC
Citation: Ra. Heim et al., DISTRIBUTION OF 13 TRUNCATING MUTATIONS IN THE NEUROFIBROMATOSIS-1 GENE, Human molecular genetics, 4(6), 1995, pp. 975-981
NEUROFIBROMATOSIS-1 (NF1) TRUNCATING MUTATIONS ARE DISPERSED THROUGHOUT THE NF1 GENE
Authors: HEIM RA KAMMORGAN LNW BINNIE CG CORNS DD CAYOUETTE MC FARBER RA AYLSWORTH AS SILVERMAN LM LUCE MC
Citation: Ra. Heim et al., NEUROFIBROMATOSIS-1 (NF1) TRUNCATING MUTATIONS ARE DISPERSED THROUGHOUT THE NF1 GENE, American journal of human genetics, 57(4), 1995, pp. 1233-1233
RAPID CHARACTERIZATION OF THE VARIABLE-LENGTH POLYTHYMIDINE TRACT IN INTRON-8 OF THE CFTR GENE - IMPACT ON DIFFERENT CYSTIC-FIBROSIS MUTATIONS
Authors: FRIEDMAN KJ HEIM RA KNOWLES MR SILVERMAN LM
Citation: Kj. Friedman et al., RAPID CHARACTERIZATION OF THE VARIABLE-LENGTH POLYTHYMIDINE TRACT IN INTRON-8 OF THE CFTR GENE - IMPACT ON DIFFERENT CYSTIC-FIBROSIS MUTATIONS, American journal of human genetics, 57(4), 1995, pp. 1384-1384
SCREENING FOR TRUNCATED NF1 PROTEINS
Authors: HEIM RA SILVERMAN LM FARBER RA KAMMORGAN LNW LUCE MC
Citation: Ra. Heim et al., SCREENING FOR TRUNCATED NF1 PROTEINS, Nature genetics, 8(3), 1994, pp. 218-219
DIFFERENTIAL TOXICITY OF PARENTERAL ANTIBIOTIC DRUGS IN RENAL-CELLS (LLC-PK1) GROWN ON PERMEABLE MEMBRANE FILTERS
Authors: WILLIAMS PD LASKA DA HEIM RA RUSH GF
Citation: Pd. Williams et al., DIFFERENTIAL TOXICITY OF PARENTERAL ANTIBIOTIC DRUGS IN RENAL-CELLS (LLC-PK1) GROWN ON PERMEABLE MEMBRANE FILTERS, Toxicology methods, 3(2), 1993, pp. 130-141
DETECTION OF NOVEL MUTATIONS AND SEQUENCE VARIATIONS WITHIN THE CFTR GENE BY HETERODUPLEX SCREENING ON ACRYLAMIDE AND MDE
Authors: FRIEDMAN KJ BURCH LH WOOD BM HIGHSMITH WE HEIM RA KNOWLES MR SILVERMAN LM
Citation: Kj. Friedman et al., DETECTION OF NOVEL MUTATIONS AND SEQUENCE VARIATIONS WITHIN THE CFTR GENE BY HETERODUPLEX SCREENING ON ACRYLAMIDE AND MDE, American journal of human genetics, 53(3), 1993, pp. 1818-1818
Risultati: 1-9 |