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Results: 1-7 |
Results: 7
AN AQUAPORIN-2 WATER CHANNEL MUTANT WHICH CAUSES AUTOSOMAL-DOMINANT NEPHROGENIC DIABETES-INSIPIDUS IS RETAINED IN THE GOLGI-COMPLEX
Authors: MULDERS SM BICHET DG RIJSS JPL KAMSTEEG EJ ARTHUS MF LONERGAN M FUJIWARA M MORGAN K LEIJENDEKKER R VANDERSLUIJS P VANOS CH DEEN PMT
Citation: Sm. Mulders et al., AN AQUAPORIN-2 WATER CHANNEL MUTANT WHICH CAUSES AUTOSOMAL-DOMINANT NEPHROGENIC DIABETES-INSIPIDUS IS RETAINED IN THE GOLGI-COMPLEX, The Journal of clinical investigation, 102(1), 1998, pp. 57-66
AN AQP2 MUTANT ENCODED IN DOMINANTLY-INHERITED NEPHROGENIC DIABETES-INSIPIDUS IS IMPAIRED IN ITS ROUTING FROM A POST-ENDOPLASMIC RETICULUM COMPARTMENT
Authors: MULDERS SM BICHET DG RIJSS JPL KAMSTEEG EJ ARTHUS MF LONERGAN M FUJIWARA M MORGAN K VANOS CH DEEN PMT
Citation: Sm. Mulders et al., AN AQP2 MUTANT ENCODED IN DOMINANTLY-INHERITED NEPHROGENIC DIABETES-INSIPIDUS IS IMPAIRED IN ITS ROUTING FROM A POST-ENDOPLASMIC RETICULUM COMPARTMENT, Molecular biology of the cell, 8, 1997, pp. 1772-1772
AN AQP2 MUTANT ENCODED IN DOMINANTLY-INHERITED NEPHROGENIC DIABETES-INSIPIDUS IS IMPAIRED IN ITS ROUTING FROM A POST-ENDOPLASMIC RETICULUM COMPARTMENT
Authors: MULDERS SM RIJSS JPL KAMSTEEG EJ BICHET DG VANOS CH DEEN PMT
Citation: Sm. Mulders et al., AN AQP2 MUTANT ENCODED IN DOMINANTLY-INHERITED NEPHROGENIC DIABETES-INSIPIDUS IS IMPAIRED IN ITS ROUTING FROM A POST-ENDOPLASMIC RETICULUM COMPARTMENT, Journal of the American Society of Nephrology, 8, 1997, pp. 104-104
A BRCA1 FOUNDER MUTATION, IDENTIFIED WITH HAPLOTYPE ANALYSIS, ALLOWING GENOTYPE PHENOTYPE DETERMINATION AND PREDICTIVE TESTING/
Authors: DORUM A MOLLER P KAMSTEEG EJ SCHEFFER H BURTON M HEIMDAL KR MAEHLE LO HOVIG E TROPE CG VANDERHOUT AH VANDERMEULEN MA BUYS CHCM MEERMAN GJT
Citation: A. Dorum et al., A BRCA1 FOUNDER MUTATION, IDENTIFIED WITH HAPLOTYPE ANALYSIS, ALLOWING GENOTYPE PHENOTYPE DETERMINATION AND PREDICTIVE TESTING/, European journal of cancer, 33(14), 1997, pp. 2390-2392
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
EXTENSIVE MUTATION SCANNING OF RET IN SPORADIC MEDULLARY-THYROID CARCINOMA AND OF RET AND VHL IN SPORADIC PHEOCHROMOCYTOMA REVEALS INVOLVEMENT OF THESE GENES IN ONLY A MINORITY OF CASES
Authors: HOFSTRA RMW STELWAGEN T STULP RP DEJONG D HULSBEEK M KAMSTEEG EJ VANDENBERG A LANDSVATER RM VERMEY A MOLENAAR WM LIPS CJM BUYS CHCM
Citation: Rmw. Hofstra et al., EXTENSIVE MUTATION SCANNING OF RET IN SPORADIC MEDULLARY-THYROID CARCINOMA AND OF RET AND VHL IN SPORADIC PHEOCHROMOCYTOMA REVEALS INVOLVEMENT OF THESE GENES IN ONLY A MINORITY OF CASES, The Journal of clinical endocrinology and metabolism, 81(8), 1996, pp. 2881-2884
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
Risultati: 1-7 |