AAAAAA

   
Results: 1-19 |
Results: 19
IDENTIFICATION OF 4 NOVEL MUTATIONS IN THE FACTOR-VIII GENE - 3 MISSENSE MUTATIONS (E1875G, G2088S, I2185T) AND A 2-BP DELETION (1780DELTC)
Authors: TAVASSOLI K EIGEL A DWORNICZAK B VALTSEVA E HORST J
Citation: K. Tavassoli et al., IDENTIFICATION OF 4 NOVEL MUTATIONS IN THE FACTOR-VIII GENE - 3 MISSENSE MUTATIONS (E1875G, G2088S, I2185T) AND A 2-BP DELETION (1780DELTC), Human mutation, 1998, pp. 260-262
COMPARISON OF CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS AND SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS FOR DETECTION OF MUTATIONS INTHE BRCA1 GENE USING OPTIMIZED CONFORMATION ANALYSIS PROTOCOLS
Authors: MARKOFF A SORMBROEN H BOGDANOVA N PREISLERADAMS S GANEV V DWORNICZAK B HORST J
Citation: A. Markoff et al., COMPARISON OF CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS AND SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS FOR DETECTION OF MUTATIONS INTHE BRCA1 GENE USING OPTIMIZED CONFORMATION ANALYSIS PROTOCOLS, European journal of human genetics, 6(2), 1998, pp. 145-150
CHARACTERIZATION OF THE MURINE POLYCYSTIC KIDNEY-DISEASE (PKD2) GENE
Authors: PENNEKAMP P BOGDANOVA N WILDA M MARKOFF A HAMEISTER H HORST J DWORNICZAK B
Citation: P. Pennekamp et al., CHARACTERIZATION OF THE MURINE POLYCYSTIC KIDNEY-DISEASE (PKD2) GENE, Mammalian genome, 9(9), 1998, pp. 749-752
GENETIC-DISEASES OF THE SEMINAL DUCTS
Authors: MESCHEDE D DWORNICZAK B NIESCHLAG E HORST J
Citation: D. Meschede et al., GENETIC-DISEASES OF THE SEMINAL DUCTS, Biomedicine & pharmacotherapy, 52(5), 1998, pp. 197-203
THE GENOMIC ORGANIZATION AND THE FULL CODING REGION OF THE HUMAN PAX7GENE
Authors: VOROBYOV E MERTSALOV I DOCKHORNDWORNICZAK B DWORNICZAK B HORST J
Citation: E. Vorobyov et al., THE GENOMIC ORGANIZATION AND THE FULL CODING REGION OF THE HUMAN PAX7GENE, Genomics, 45(1), 1997, pp. 168-174
DISTINCT SPECTRUM OF CFTR GENE-MUTATIONS IN CONGENITAL ABSENCE OF VAS-DEFERENS
Authors: DORK T DWORNICZAK B AULEHLASCHOLZ C WIECZOREK D BOHM I MAYEROVA A SEYDEWITZ HH NIESCHLAG E MESCHEDE D HORST J PANDER HJ SPERLING H RATJEN F PASSARGE E SCHMIDTKE J STUHRMANN M
Citation: T. Dork et al., DISTINCT SPECTRUM OF CFTR GENE-MUTATIONS IN CONGENITAL ABSENCE OF VAS-DEFERENS, Human genetics, 100(3-4), 1997, pp. 365-377
SCREENING FOR DELETIONS OF THE Y-CHROMOSOME INVOLVING THE DAZ (DELETED IN AZOOSPERMIA) GENE IN AZOOSPERMIA AND SEVERE OLIGOZOOSPERMIA
Authors: SIMONI M GROMOLL J DWORNICZAK B ROLF C ABSHAGEN K KAMISCHKE A CARANI C MESCHEDE D BEHRE HM HORST J NIESCHLAG E
Citation: M. Simoni et al., SCREENING FOR DELETIONS OF THE Y-CHROMOSOME INVOLVING THE DAZ (DELETED IN AZOOSPERMIA) GENE IN AZOOSPERMIA AND SEVERE OLIGOZOOSPERMIA, Fertility and sterility, 67(3), 1997, pp. 542-547
CFTR GENE-MUTATIONS IN MEN WITH BILATERAL EJACULATORY-DUCT OBSTRUCTION AND ANOMALIES OF THE SEMINAL-VESICLES
Authors: MESCHEDE D DWORNICZAK B BEHRE HM KLIESCH S CLAUSTRES M NIESCHLAG E HORST J
Citation: D. Meschede et al., CFTR GENE-MUTATIONS IN MEN WITH BILATERAL EJACULATORY-DUCT OBSTRUCTION AND ANOMALIES OF THE SEMINAL-VESICLES, American journal of human genetics, 61(5), 1997, pp. 1200-1202
A CELL MODEL TO STUDY THE MOLECULAR-BASIS OF ALVEOLAR RHABDOMYOSARCOMA GENESIS
Authors: VOROBYOV EV WILKE K KONDRASHOV AV MERTSALOV IB TAVASSOLI K RUBE C DOCKHORNDWORNICZAK B DWORNICZAK B KRAMAROV VM HORST J
Citation: Ev. Vorobyov et al., A CELL MODEL TO STUDY THE MOLECULAR-BASIS OF ALVEOLAR RHABDOMYOSARCOMA GENESIS, American journal of human genetics, 61(4), 1997, pp. 476-476
GENETIC-HETEROGENEITY OF POLYCYSTIC KIDNEY-DISEASE IN BULGARIA
Authors: BOGDANOVA N DWORNICZAK B DRAGOVA D TODOROV V DIMITRAKOV D KALINOV K HALLMAYER J HORST J KALAYDJIEVA L
Citation: N. Bogdanova et al., GENETIC-HETEROGENEITY OF POLYCYSTIC KIDNEY-DISEASE IN BULGARIA, Human genetics, 95(6), 1995, pp. 645-650
2 POLYMORPHIC DINUCLEOTIDE REPEATS IN INTRON-44 OF THE DYSTROPHIN GENE
Authors: KOCHLING S DENDUNNEN JT DWORNICZAK B HORST J
Citation: S. Kochling et al., 2 POLYMORPHIC DINUCLEOTIDE REPEATS IN INTRON-44 OF THE DYSTROPHIN GENE, Human genetics, 95(4), 1995, pp. 475-477
A POINT MUTATION IN THE TYROSINE-HYDROXYLASE GENE ASSOCIATED WITH SEGAWAS SYNDROME
Authors: LUDECKE B DWORNICZAK B BARTHOLOME K
Citation: B. Ludecke et al., A POINT MUTATION IN THE TYROSINE-HYDROXYLASE GENE ASSOCIATED WITH SEGAWAS SYNDROME, Human genetics, 95(1), 1995, pp. 123-125
PARENTAL ORIGIN OF THE EXTRA HAPLOID CHROMOSOME SET IN TRIPLOIDIES DIAGNOSED PRENATALLY
Authors: MINY P KOPPERS B DWORNICZAK B BOGDANOVA N HOLZGREVE W TERCANLI S BASARAN S REHDER H EXELER R HORST J
Citation: P. Miny et al., PARENTAL ORIGIN OF THE EXTRA HAPLOID CHROMOSOME SET IN TRIPLOIDIES DIAGNOSED PRENATALLY, American journal of medical genetics, 57(1), 1995, pp. 102-106
FRAGILE-X PREMUTATION FREQUENCY IN NORTHERN THAILAND
Authors: EIGEL A ZYGULSKA M DOLSCHEID T BOGDANOVA N DWORNICZAK B STEGER F SANGUANSERMSRI T FLATZ G HORST J
Citation: A. Eigel et al., FRAGILE-X PREMUTATION FREQUENCY IN NORTHERN THAILAND, American journal of human genetics, 57(4), 1995, pp. 1838-1838
EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS
Authors: BYCK S MORGAN K TYFIELD L DWORNICZAK B SCRIVER CR
Citation: S. Byck et al., EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS, Human molecular genetics, 3(9), 1994, pp. 1675-1677
LINKAGE OF THE TYROSINE-HYDROXYLASE GENE AND SEGAWAS SYNDROME
Authors: BARTHOLOME K DWORNICZAK B LUDECKE B
Citation: K. Bartholome et al., LINKAGE OF THE TYROSINE-HYDROXYLASE GENE AND SEGAWAS SYNDROME, American journal of human genetics, 53(3), 1993, pp. 889-889
USE OF QUANTITATIVE PCR IN DMD BMD CARRIER DIAGNOSIS
Authors: KOCHLING S DWORNICZAK B HORST J
Citation: S. Kochling et al., USE OF QUANTITATIVE PCR IN DMD BMD CARRIER DIAGNOSIS, American journal of human genetics, 53(3), 1993, pp. 1185-1185
PARENTAL ORIGIN OF THE SUPERNUMERARY CHROMOSOME SET IN TRIPLOIDS - MATERNAL ORIGIN AND PROLONGED INTRAUTERINE SURVIVAL
Authors: DWORNICZAK B KOPPERS B BOGDANOVA N HOLZGREVE W TERCANIL S HORST J MINY P
Citation: B. Dworniczak et al., PARENTAL ORIGIN OF THE SUPERNUMERARY CHROMOSOME SET IN TRIPLOIDS - MATERNAL ORIGIN AND PROLONGED INTRAUTERINE SURVIVAL, American journal of human genetics, 53(3), 1993, pp. 1403-1403
HETEROGENEITY OF MUTATIONS IN BULGARIAN PHENYLKETONURIA HAPLOTYPE-1 AND HAPLOTYPE-4 ALLELES
Authors: KALAYDJIEVA L DWORNICZAK B KREMENSKY I KOPRIVAROVA K RADEVA B MILUSHEVA R AULEHLASCHOLZ C HORST J
Citation: L. Kalaydjieva et al., HETEROGENEITY OF MUTATIONS IN BULGARIAN PHENYLKETONURIA HAPLOTYPE-1 AND HAPLOTYPE-4 ALLELES, Clinical genetics, 41(3), 1992, pp. 123-128
Risultati: 1-19 |