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Results: 1-8 |
Results: 8
ASN540THR SUBSTITUTION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 TYROSINE KINASE DOMAIN CAUSING HYPOCHONDROPLASIA
Authors: DEUTZTERLOUW PP LOSEKOOT M AALFS CM HENNEKAM RCM BAKKER E
Citation: Pp. Deutzterlouw et al., ASN540THR SUBSTITUTION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 TYROSINE KINASE DOMAIN CAUSING HYPOCHONDROPLASIA, Human mutation, 1998, pp. 62-65
POINT MUTATION SCREENING FOR 16 EXONS OF THE DYSTROPHIN GENE BY MULTIPLEX SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
Authors: KNEPPERS AJL DEUTZTERLOUW PP DENDUNNEN JT VANOMMEN GJB BAKKER E
Citation: Ajl. Kneppers et al., POINT MUTATION SCREENING FOR 16 EXONS OF THE DYSTROPHIN GENE BY MULTIPLEX SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS, Human mutation, 5(3), 1995, pp. 235-242
INVERSIONS IN THE FACTOR-VIII GENE - IMPROVEMENT OF CARRIER DETECTIONAND PRENATAL-DIAGNOSIS IN DUTCH HEMOPHILIA-A FAMILIES
Authors: DEUTZTERLOUW PP LOSEKOOT M OLMER R PIENEMAN WC DEVRIESVANDERWEERD S BRIET E BAKKER E
Citation: Pp. Deutzterlouw et al., INVERSIONS IN THE FACTOR-VIII GENE - IMPROVEMENT OF CARRIER DETECTIONAND PRENATAL-DIAGNOSIS IN DUTCH HEMOPHILIA-A FAMILIES, Journal of Medical Genetics, 32(4), 1995, pp. 296-300
DENATURING AND NONDENATURING GEL-ELECTROPHORESIS AS METHODS FOR THE DETECTION OF JUNCTIONAL DIVERSITY IN REARRANGED T-CELL RECEPTOR SEQUENCES
Authors: OFFERMANS MTC SONNEVELD RD BAKKER E DEUTZTERLOUW PP DEGEUS B ROZING J
Citation: Mtc. Offermans et al., DENATURING AND NONDENATURING GEL-ELECTROPHORESIS AS METHODS FOR THE DETECTION OF JUNCTIONAL DIVERSITY IN REARRANGED T-CELL RECEPTOR SEQUENCES, Journal of immunological methods, 181(1), 1995, pp. 101-114
SCREENING FOR MUTATIONS IN HEMOPHILIA-A PATIENTS BY MULTIPLEX PCR-SSCP, SOUTHERN BLOTTING AND RNA ANALYSIS - THE DETECTION OF A GENETIC ABNORMALITY IN THE FACTOR-VIII GENE IN 30 OUT OF 35 PATIENTS
Authors: PIENEMAN WC DEUTZTERLOUW PP REITSMA PH BRIET E
Citation: Wc. Pieneman et al., SCREENING FOR MUTATIONS IN HEMOPHILIA-A PATIENTS BY MULTIPLEX PCR-SSCP, SOUTHERN BLOTTING AND RNA ANALYSIS - THE DETECTION OF A GENETIC ABNORMALITY IN THE FACTOR-VIII GENE IN 30 OUT OF 35 PATIENTS, British Journal of Haematology, 90(2), 1995, pp. 442-449
11 NOVEL MUTATIONS IN THE FACTOR-VIII GENE FROM BRAZILIAN HEMOPHILIA-A PATIENTS
Authors: ARRUDA VR PIENEMAN WC REITSMA PH DEUTZTERLOUW PP ANNICHINOBIZZACCHI JM BRIET E COSTA FF
Citation: Vr. Arruda et al., 11 NOVEL MUTATIONS IN THE FACTOR-VIII GENE FROM BRAZILIAN HEMOPHILIA-A PATIENTS, Blood, 86(8), 1995, pp. 3015-3020
FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES
Authors: CHRISTIAENS GCML OOSTERWIJK JC STIGTER RH DEUTZTERLOUW PP KNEPPERS ALJ BAKKER E
Citation: Gcml. Christiaens et al., FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES, Prenatal diagnosis, 14(1), 1994, pp. 51-55
POINT MUTATION SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY (DMD) BY SSCP-ANALYSIS OF MULTIPLEX PCR PRODUCTS BY USE OF THE PHASTSYSTEM
Authors: KNEPPERS ALJ DEUTZTERLOUW PP VANOMMEN GJB BAKKER E
Citation: Alj. Kneppers et al., POINT MUTATION SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY (DMD) BY SSCP-ANALYSIS OF MULTIPLEX PCR PRODUCTS BY USE OF THE PHASTSYSTEM, American journal of human genetics, 53(3), 1993, pp. 1493-1493
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