AAAAAA

   
Results: 1-25 | 26-45
Results: 1-25/45
MUTATIONS IN GLUT2, THE GENE FOR THE LIVER-TYPE GLUCOSE-TRANSPORTER, IN PATIENTS WITH FANCONI-BICKEL-SYNDROME (VOL 17, PG 324, 1997)
Authors: SANTER R SCHNEPPENHEIM R DOMBROWSKI A GOTZE H STEINMANN B SCHAUB J
Citation: R. Santer et al., MUTATIONS IN GLUT2, THE GENE FOR THE LIVER-TYPE GLUCOSE-TRANSPORTER, IN PATIENTS WITH FANCONI-BICKEL-SYNDROME (VOL 17, PG 324, 1997), Nature genetics, 18(3), 1998, pp. 298-298
INS405ASNPRO MUTATION IN THE VON-WILLEBRAND-FACTOR PROPEPTIDE IN RECESSIVE TYPE 2A (IIC) VON-WILLEBRANDS-DISEASE
Authors: HOLMBERG L KARPMAN D ISAKSSON C KRISTOFFERSSON AC LETHAGEN S SCHNEPPENHEIM R
Citation: L. Holmberg et al., INS405ASNPRO MUTATION IN THE VON-WILLEBRAND-FACTOR PROPEPTIDE IN RECESSIVE TYPE 2A (IIC) VON-WILLEBRANDS-DISEASE, Thrombosis and haemostasis, 79(4), 1998, pp. 718-722
FANCONI-BICKEL-SYNDROME - THE ORIGINAL PATIENT AND HIS NATURAL-HISTORY, HISTORICAL STEPS LEADING TO THE PRIMARY DEFECT, AND A REVIEW OF THELITERATURE
Authors: SANTER R SCHNEPPENHEIM R SUTER D SCHAUB J STEINMANN B
Citation: R. Santer et al., FANCONI-BICKEL-SYNDROME - THE ORIGINAL PATIENT AND HIS NATURAL-HISTORY, HISTORICAL STEPS LEADING TO THE PRIMARY DEFECT, AND A REVIEW OF THELITERATURE, European journal of pediatrics, 157(10), 1998, pp. 783-797
INTRACEREBRAL HEMORRHAGE AS A LATE COMPLICATION AFTER CNS TREATMENT OF CHILDHOOD LYMPHOMA
Authors: CLAVIEZ A NEUBAUER B LINK J SCHNEPPENHEIM R
Citation: A. Claviez et al., INTRACEREBRAL HEMORRHAGE AS A LATE COMPLICATION AFTER CNS TREATMENT OF CHILDHOOD LYMPHOMA, Klinische Padiatrie, 210(6), 1998, pp. 406-408
FANCONI-BICKEL-SYNDROME - A CONGENITAL DEFECT OF THE LIVER-TYPE FACILITATIVE GLUCOSE-TRANSPORTER
Authors: SANTER R SCHNEPPENHEIM R DOMBROWSKI A GOTZE H STEINMANN B SCHAUB J
Citation: R. Santer et al., FANCONI-BICKEL-SYNDROME - A CONGENITAL DEFECT OF THE LIVER-TYPE FACILITATIVE GLUCOSE-TRANSPORTER, Journal of inherited metabolic disease, 21(3), 1998, pp. 191-194
WILLIAMS-BEUREN-SYNDROME - LATE DIAGNOSIS IN A 24 YEAR-OLD MAN
Authors: PANKAU R PARTSCH CJ GOSCH A WINTER M SCHNEPPENHEIM R
Citation: R. Pankau et al., WILLIAMS-BEUREN-SYNDROME - LATE DIAGNOSIS IN A 24 YEAR-OLD MAN, Monatsschrift fur Kinderheilkunde, 146(2), 1998, pp. 93-96
BILATERAL RENAL-VEIN THROMBOSIS AND VENOUS SINUS THROMBOSIS IN A NEONATE WITH FACTOR-V MUTATION (FV LEIDEN)
Authors: POHL M ZIMMERHACKL LB HEINEN F SUTOR AH SCHNEPPENHEIM R BRANDIS M
Citation: M. Pohl et al., BILATERAL RENAL-VEIN THROMBOSIS AND VENOUS SINUS THROMBOSIS IN A NEONATE WITH FACTOR-V MUTATION (FV LEIDEN), The Journal of pediatrics, 132(1), 1998, pp. 159-161
MUTATIONS IN GLUT2, THE GENE FOR THE LIVER-TYPE GLUCOSE-TRANSPORTER, IN PATIENTS WITH FANCONI-BICKEL-SYNDROME
Authors: SANTER R SCHNEPPENHEIM R DOMBROWSKI A GOTZE H STEINMANN B SCHAUB J
Citation: R. Santer et al., MUTATIONS IN GLUT2, THE GENE FOR THE LIVER-TYPE GLUCOSE-TRANSPORTER, IN PATIENTS WITH FANCONI-BICKEL-SYNDROME, Nature genetics, 17(3), 1997, pp. 324-326
PERINATAL STROKE IN 4 NEWBORNS WITH F-V-LEIDEN
Authors: EBERL W SCHNEPPENHEIM R
Citation: W. Eberl et R. Schneppenheim, PERINATAL STROKE IN 4 NEWBORNS WITH F-V-LEIDEN, Thrombosis and haemostasis, 1997, pp. 410-410
DEFECTIVE DIMERIZATION OF VON-WILLEBRAND-FACTOR - A NEW CLASS OF MUTATIONS IN VWD TYPE-2 AND TYPE-3
Authors: SCHNEPPENHEIM R BRASSARD J BUDDE U KREY S SCHWAAB R OLDENBURG J
Citation: R. Schneppenheim et al., DEFECTIVE DIMERIZATION OF VON-WILLEBRAND-FACTOR - A NEW CLASS OF MUTATIONS IN VWD TYPE-2 AND TYPE-3, Thrombosis and haemostasis, 1997, pp. 1585-1585
ARGININE(506) TO GLUTAMIN MUTATION IN THE FACTOR-V GENE IN INFANCY AND CHILDHOOD - EVIDENCE OF FIBRINOLYTIC IMPAIRMENT
Authors: NOWAKGOTTL U VIELHABER H GROHMANN J SCHNEPPENHEIM R KOCH HG
Citation: U. Nowakgottl et al., ARGININE(506) TO GLUTAMIN MUTATION IN THE FACTOR-V GENE IN INFANCY AND CHILDHOOD - EVIDENCE OF FIBRINOLYTIC IMPAIRMENT, European journal of pediatrics, 156(3), 1997, pp. 195-198
DELTA-C IN EXON-18 OF THE VON-WILLEBRAND-FACTOR GENE IS THE MOST COMMON MUTATION IN PATIENTS WITH SEVERE VON-WILLEBRAND-DISEASE TYPE-3 IN POLAND
Authors: GAZDA H BUDDE U KREY S ROKICKAMILEWSKA R SCHNEPPENHEIM R
Citation: H. Gazda et al., DELTA-C IN EXON-18 OF THE VON-WILLEBRAND-FACTOR GENE IS THE MOST COMMON MUTATION IN PATIENTS WITH SEVERE VON-WILLEBRAND-DISEASE TYPE-3 IN POLAND, Blood, 90(10), 1997, pp. 3132-3132
DEFECTS IN THE PROTEIN-C ANTICOAGULANT PATHWAY AND FURTHER RISKS OF THROMBOPHILIA - FIRST RESULTS OF THE GERMAN MULTICENTER STUDY ON THROMBOEMBOLISM IN CHILDHOOD ALL
Authors: NOWAKGOTTL U SCHNEIDER C SCHWABE D SCHNEPPENHEIM R
Citation: U. Nowakgottl et al., DEFECTS IN THE PROTEIN-C ANTICOAGULANT PATHWAY AND FURTHER RISKS OF THROMBOPHILIA - FIRST RESULTS OF THE GERMAN MULTICENTER STUDY ON THROMBOEMBOLISM IN CHILDHOOD ALL, Blood, 90(10), 1997, pp. 311-311
MULTICENTER EVALUATION OF COMBINED PROTHROMBOTIC DEFECTS ASSOCIATED WITH THROMBOPHILIA IN CHILDHOOD
Authors: EHRENFORTH S KOCH HG REHAN N SCHARRER I SCHNEPPENHEIM R NOWAKGOTTL U
Citation: S. Ehrenforth et al., MULTICENTER EVALUATION OF COMBINED PROTHROMBOTIC DEFECTS ASSOCIATED WITH THROMBOPHILIA IN CHILDHOOD, Blood, 90(10), 1997, pp. 2089-2089
GEOGRAPHIC-DISTRIBUTION AND ORIGIN OF CFTR MUTATIONS IN GERMANY
Authors: TUMMLER B STORRS T DZIADEK V DORK T MEITINGER T GOLLA A BERTELEHARMS RM HARMS HK SCHRODER E CLAASS A RUTJES J SCHNEPPENHEIM R BAUER I BREUEL K STUHRMANN M SCHMIDTKE J LINDNER M EIGEL A HORST J KAISER R LENTZE MJ SCHMIDT K VONDERHARDT H ESTIVILL X
Citation: B. Tummler et al., GEOGRAPHIC-DISTRIBUTION AND ORIGIN OF CFTR MUTATIONS IN GERMANY, Human genetics, 97(6), 1996, pp. 727-731
RESULTS OF A SCREENING FOR VON-WILLEBRAND DISEASE TYPE 2N PATIENTS WITH SUSPECTED HEMOPHILIA-A OR VAN WILLEBRAND DISEASE TYPE-1
Authors: SCHNEPPENHEIM R BUDDE U KREY S DREWKE E BERGMANN F LECHLER E OLDENBURG J SCHWAAB R
Citation: R. Schneppenheim et al., RESULTS OF A SCREENING FOR VON-WILLEBRAND DISEASE TYPE 2N PATIENTS WITH SUSPECTED HEMOPHILIA-A OR VAN WILLEBRAND DISEASE TYPE-1, Thrombosis and haemostasis, 76(4), 1996, pp. 598-602
VON-WILLEBRAND DISEASE
Authors: SCHNEPPENHEIM R
Citation: R. Schneppenheim, VON-WILLEBRAND DISEASE, European journal of pediatrics, 155(9), 1996, pp. 751-752
PREVALENCE OF FACTOR-V LEIDEN IN CHILDREN WITH THROMBOEMBOLISM
Authors: ASCHKA I AUMANN V BERGMANN F BUDDE U EBERL W ECKHOFDONOVAN S KREY S NOWAKGOTTL U SCHOBESS R SUTOR AH WENDISCH J SCHNEPPENHEIM R
Citation: I. Aschka et al., PREVALENCE OF FACTOR-V LEIDEN IN CHILDREN WITH THROMBOEMBOLISM, European journal of pediatrics, 155(12), 1996, pp. 1009-1014
INHERITED DEFECTS OF THE PROTEIN-C ANTICOAGULANT SYSTEM IN CHILDHOOD THROMBOEMBOLISM
Authors: NOWAKGOTTL U AUBERGER K GOBEL U KREUZ W SCHNEPPENHEIM R VIELHABER H ZENZ W ZIEGER B
Citation: U. Nowakgottl et al., INHERITED DEFECTS OF THE PROTEIN-C ANTICOAGULANT SYSTEM IN CHILDHOOD THROMBOEMBOLISM, European journal of pediatrics, 155(11), 1996, pp. 921-927
HEPATOPATHY IN PATIENTS WITH NEUROBLASTOM A STAGE 4S
Authors: CLAVIEZ A HERO B SCHNEPPENHEIM R BERTHOLD F
Citation: A. Claviez et al., HEPATOPATHY IN PATIENTS WITH NEUROBLASTOM A STAGE 4S, Klinische Padiatrie, 208(4), 1996, pp. 221-228
COAGULATION AND FIBRINOLYSIS IN CHILDREN WITH APC-RESISTANCE - A POPULATION STUDY
Authors: NOWAKGOTTL U VIELHABER H SCHNEPPENHEIM R KOCH HG
Citation: U. Nowakgottl et al., COAGULATION AND FIBRINOLYSIS IN CHILDREN WITH APC-RESISTANCE - A POPULATION STUDY, Fibrinolysis, 10, 1996, pp. 25-27
APC RESISTANCE IN NEONATES AND INFANTS - ADJUSTMENT OF THE APTT-BASEDMETHOD
Authors: NOWAKGOTTL U KOHLHASE B VIELHABER H ASCHKA I SCHNEPPENHEIM R JURGENS H
Citation: U. Nowakgottl et al., APC RESISTANCE IN NEONATES AND INFANTS - ADJUSTMENT OF THE APTT-BASEDMETHOD, Thrombosis research, 81(6), 1996, pp. 665-670
DEFECTIVE DIMERIZATION OF VON-WILLEBRAND-FACTOR SUBUNITS DUE TO A CYS-]ARG MUTATION IN TYPE-IID VON-WILLEBRAND DISEASE
Authors: SCHNEPPENHEIM R BRASSARD J KREY S BUDDE U KUNICKI TJ HOLMBERG L WARE J RUGGERI ZM
Citation: R. Schneppenheim et al., DEFECTIVE DIMERIZATION OF VON-WILLEBRAND-FACTOR SUBUNITS DUE TO A CYS-]ARG MUTATION IN TYPE-IID VON-WILLEBRAND DISEASE, Proceedings of the National Academy of Sciences of the United Statesof America, 93(8), 1996, pp. 3581-3586
RESISTANCE TO ACTIVATED PROTEIN-C (APCR) IN CHILDREN WITH VENOUS OR ARTERIAL THROMBOEMBOLISM
Authors: NOWAKGOTTL U KOCH HG ASCHKA I KOHLHASE B VIELHABER H KURLEMANN G OLESZCUKRASCHKE K KEHL HG JURGENS H SCHNEPPENHEIM R
Citation: U. Nowakgottl et al., RESISTANCE TO ACTIVATED PROTEIN-C (APCR) IN CHILDREN WITH VENOUS OR ARTERIAL THROMBOEMBOLISM, British Journal of Haematology, 92(4), 1996, pp. 992-998
IDENTIFICATION OF A SINGLE-BASE DELETION (DELTA-C08565 8566) IN A PATIENT WITH VON-WILLEBRAND DISEASE TYPE 2A (SUBTYPE IIE)/
Authors: SCHNEPPENHEIM R BUDDE U KREY S DREWKE E
Citation: R. Schneppenheim et al., IDENTIFICATION OF A SINGLE-BASE DELETION (DELTA-C08565 8566) IN A PATIENT WITH VON-WILLEBRAND DISEASE TYPE 2A (SUBTYPE IIE)/, Blood, 88(10), 1996, pp. 1294-1294
Risultati: 1-25 | 26-45