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Results: 1-15 |
Results: 15
LOSS OF FUNCTION MUTATION IN THE ENDOTHELIN-CONVERTING ENZYME-1 (ECE1) IN A PATIENT WITH HIRSCHSPRUNG-DISEASE AND CARDIAC DEFECTS
Authors: HOFSTRA RMW VALDENAIRE O ARCH E OSINGA J MEIJERS C BUYS CHCM
Citation: Rmw. Hofstra et al., LOSS OF FUNCTION MUTATION IN THE ENDOTHELIN-CONVERTING ENZYME-1 (ECE1) IN A PATIENT WITH HIRSCHSPRUNG-DISEASE AND CARDIAC DEFECTS, European journal of human genetics, 6, 1998, pp. 403-403
OPTIMIZATION OF FRAGMENT AND PRIMER SELECTION FOR MUTATION DETECTION BY DENATURING GRADIENT GEL
Authors: WU Y HAYES VM OSINGA J MULDER IM LOOMAN MWG BUYS CHCM
Citation: Y. Wu et al., OPTIMIZATION OF FRAGMENT AND PRIMER SELECTION FOR MUTATION DETECTION BY DENATURING GRADIENT GEL, European journal of human genetics, 6, 1998, pp. 4251-4251
TIME-ACTION PROFILES OF NOVEL PREMIXED PREPARATIONS OF INSULIN LISPROAND NPL INSULIN
Authors: HEISE T WEYER C SERWAS A HEINRICHS S OSINGA J ROACH P WOODWORTH J GUDAT U HEINEMANN L
Citation: T. Heise et al., TIME-ACTION PROFILES OF NOVEL PREMIXED PREPARATIONS OF INSULIN LISPROAND NPL INSULIN, Diabetes care, 21(5), 1998, pp. 800-803
MSH2 AND MLH1 MUTATIONS IN SPORADIC REPLICATION ERROR-POSITIVE COLORECTAL-CARCINOMA AS ASSESSED BY 2-DIMENSIONAL DNA ELECTROPHORESIS
Authors: WU Y NYSTROMLAHTI M OSINGA J LOOMAN MWG PELTOMAKI P AALTONEN LA DELACHAPELLE A HOFSTRA RMW BUYS CHCM
Citation: Y. Wu et al., MSH2 AND MLH1 MUTATIONS IN SPORADIC REPLICATION ERROR-POSITIVE COLORECTAL-CARCINOMA AS ASSESSED BY 2-DIMENSIONAL DNA ELECTROPHORESIS, Genes, chromosomes & cancer, 18(4), 1997, pp. 269-278
MUTATIONS IN HIRSCHSPRUNG-DISEASE - WHEN DOES A MUTATION CONTRIBUTE TO THE PHENOTYPE
Authors: HOFSTRA RMW OSINGA J BUYS CHCM
Citation: Rmw. Hofstra et al., MUTATIONS IN HIRSCHSPRUNG-DISEASE - WHEN DOES A MUTATION CONTRIBUTE TO THE PHENOTYPE, European journal of human genetics, 5(4), 1997, pp. 180-185
TIME-ACTION PROFILES OF PREMIXED FORMULATIONS OF INSULIN LISPRO AND NPL-INSULIN
Authors: HEISE T WEYER C SERWAS A HEINRICHS S OSINGA J ROACH P WOODWORTH J HEINEMANN L
Citation: T. Heise et al., TIME-ACTION PROFILES OF PREMIXED FORMULATIONS OF INSULIN LISPRO AND NPL-INSULIN, Diabetologia, 40, 1997, pp. 1394-1394
TIME-ACTION PROFILES OF PREMIXED FORMULATIONS OF INSULIN LISPRO AND NPL-INSULIN
Authors: HEISE T WEYER C SERWAS A HEINRICHS S OSINGA J ROACH P WOODWORTH J HEINEMANN L
Citation: T. Heise et al., TIME-ACTION PROFILES OF PREMIXED FORMULATIONS OF INSULIN LISPRO AND NPL-INSULIN, Diabetes, 46, 1997, pp. 586-586
A HOMOZYGOUS MUTATION IN THE ENDOTHELIN-3 GENE ASSOCIATED WITH A COMBINED WAARDENBURG TYPE-2 AND HIRSCHSPRUNG PHENOTYPE (SHAH-WAARDENBURG SYNDROME)
Authors: HOFSTRA RMW OSINGA J TANSINDHUNATA G WU Y KAMSTEEG EJ STULP RP VANRAVENSWAAIJARTS C MAJOORKRAKAUER D ANGRIST M CHAKRAVARTI A MEIJERS C BUYS CHCM
Citation: Rmw. Hofstra et al., A HOMOZYGOUS MUTATION IN THE ENDOTHELIN-3 GENE ASSOCIATED WITH A COMBINED WAARDENBURG TYPE-2 AND HIRSCHSPRUNG PHENOTYPE (SHAH-WAARDENBURG SYNDROME), Nature genetics, 12(4), 1996, pp. 445-447
PRENATAL PREDICTION OF SPINAL MUSCULAR-ATROPHY - EXPERIENCE WITH LINKAGE STUDIES AND CONSEQUENCES OF PRESENT SMN DELETION ANALYSIS
Authors: COBBEN JM SCHEFFER H DEVISSER M VANDERSTEEGE G VERHEY JBBM OSINGA J BURTON M MENSINK RGJ GROOTSCHOLTEN PM TENKATE LP BUYS CHCM
Citation: Jm. Cobben et al., PRENATAL PREDICTION OF SPINAL MUSCULAR-ATROPHY - EXPERIENCE WITH LINKAGE STUDIES AND CONSEQUENCES OF PRESENT SMN DELETION ANALYSIS, European journal of human genetics, 4(4), 1996, pp. 231-236
A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION
Authors: VANDERSTEEGE G DRAAIJERS TG GROOTSCHOLTEN PM OSINGA J ANZEVINO R VELONA I DENDUNNEN JT SCHEFFER H BRAHE C VANOMMEN GJB BUYS CHCM
Citation: G. Vandersteege et al., A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION, European journal of human genetics, 3(2), 1995, pp. 87-95
A SUBLOCUS OF THE MULTICOPY MICROSATELLITE MARKER CMS1 MAPS PROXIMAL TO SPINAL MUSCULAR-ATROPHY (SMA) AS SHOWN BY RECOMBINANT ANALYSIS
Authors: VANDERSTEEGE G COBBEN JM OSINGA J SCHEFFER H VANOMMEN GJB BUYS CHCM
Citation: G. Vandersteege et al., A SUBLOCUS OF THE MULTICOPY MICROSATELLITE MARKER CMS1 MAPS PROXIMAL TO SPINAL MUSCULAR-ATROPHY (SMA) AS SHOWN BY RECOMBINANT ANALYSIS, Human genetics, 96(5), 1995, pp. 589-591
PCR-BASED DMA TEST TO CONFIRM CLINICAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
Authors: VANDERSTEEGE G GROOTSCHOLTEN PM VANDERVLIES P DRAAIJERS TG OSINGA J COBBEN JM SCHEFFER H BUYS CHCM
Citation: G. Vandersteege et al., PCR-BASED DMA TEST TO CONFIRM CLINICAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY, Lancet, 345(8955), 1995, pp. 985-986
MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS
Authors: HOFSTRA RMW ANGRIST M OSINGA J STULP RP TAN G KAMSTEEG EJ SCHEFFER H CHAKRAVARTI A BUYS CHCM
Citation: Rmw. Hofstra et al., MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1110-1110
IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES
Authors: VANDERSTEEGE G COBBEN JM BRAHE C OSINGA J ZAPPATA S SCHEFFER H NERI G VANOMMEN GJB BUYS CHCM TENKATE LP
Citation: G. Vandersteege et al., IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES, Genomics, 22(1), 1994, pp. 219-222
MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS
Authors: BRAHE C VELONA I VANDERSTEEGE G ZAPPATA S VANDEVEEN AY OSINGA J TOPS CMJ FODDE R KHAN PM BUYS CHCM NERI G
Citation: C. Brahe et al., MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS, Human genetics, 93(5), 1994, pp. 494-501
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