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Results:
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Results: 20
Authors:
TAVASSOLI K
EIGEL A
WILKE K
POLLMANN H
HORST J
Citation: K. Tavassoli et al., MOLECULAR DIAGNOSTICS OF 15 HEMOPHILIA-A PATIENTS - CHARACTERIZATION OF 8 NOVEL MUTATIONS IN THE FACTOR-VIII GENE, 2 OF WHICH RESULT IN EXON SKIPPING, Human mutation, 12(5), 1998, pp. 301-303
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
Authors:
ROLF B
HORST B
EIGEL A
SANGUANSERMSRI T
BRINKMANN B
HORST J
Citation: B. Rolf et al., MICROSATELLITE PROFILES REVEAL AN UNEXPECTED GENETIC-RELATIONSHIP BETWEEN ASIAN POPULATIONS, Human genetics, 102(6), 1998, pp. 647-652
Authors:
BISSE E
ZORN N
EIGEL A
LIZAMA M
HUAMANGUILLEN P
MARZ W
VANDORSSELAER A
WIELAND H
Citation: E. Bisse et al., HEMOGLOBIN RAMBAM (BETA-69[EI3]GLY-]ASP), A PITFALL IN THE ASSESSMENTOF DIABETIC CONTROL - CHARACTERIZATION BY ELECTROSPRAY MASS-SPECTROMETRY AND HPLC, Clinical chemistry, 44(10), 1998, pp. 2172-2177
Authors:
HORST B
EIGEL A
SANGUANSERMSRI T
ROLF B
Citation: B. Horst et al., ANALYSIS OF THE SHORT TANDEM REPEAT SYSTEMS HUMVWA AND HUMF13B IN A POPULATION-SAMPLE FROM NORTHERN THAILAND, International journal of legal medicine, 110(4), 1997, pp. 235-237
Authors:
TAVASSOLI K
EIGEL A
POLLMANN H
HORST J
Citation: K. Tavassoli et al., MUTATIONAL ANALYSIS OF ECTOPIC FACTOR-VIII TRANSCRIPTS FROM HEMOPHILIA-A PATIENTS - IDENTIFICATION OF CRYPTIC SPLICE-SITE, EXON SKIPPING AND NOVEL POINT MUTATIONS, Human genetics, 100(5-6), 1997, pp. 508-511
Authors:
LEMMENSZYGULSKA M
EIGEL A
HELBIG B
SANGUANSERMSRI T
HORST J
FLATZ G
Citation: M. Lemmenszygulska et al., PREVALENCE OF ALPHA-THALASSEMIAS IN NORTHERN THAILAND, Human genetics, 98(3), 1996, pp. 345-347
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
Authors:
ZYGULSKA M
EIGEL A
HELBIG B
SANGUANSERMSRI T
FLATZ G
Citation: M. Zygulska et al., NORTHERN THAILAND - PREVALENCE OF HEMOGLOBIN CONSTANT SPRING AND DELETIONAL ALPHA-THALASSEMIAS, American journal of human genetics, 57(4), 1995, pp. 999-999
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
Authors:
ZYGULSKA M
EIGEL A
PIETRZYK JJ
HORST J
Citation: M. Zygulska et al., PHENYLKETONURIA IN SOUTHERN POLAND - A NEW SPLICE MUTATION IN INTRON-9 AT THE PAH LOCUS, Human mutation, 4(4), 1994, pp. 297-299
NONISOTOPIC DETECTION OF MUTATIONS USING A MODIFIED SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
Authors:
WEIDNER J
EIGEL A
HORST J
KOHNLEIN W
Citation: J. Weidner et al., NONISOTOPIC DETECTION OF MUTATIONS USING A MODIFIED SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS, Human mutation, 4(1), 1994, pp. 55-56
Authors:
MESCHEDE D
KECK C
DEGEYTER C
EIGEL A
HORST J
NIESCHLAG E
Citation: D. Meschede et al., MUTATION IN THE CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR GENE IN A MANWITH BILATERAL CONGENITAL APLASIA OF THE VAS-DEFERENS, Deutsche Medizinische Wochenschrift, 118(18), 1993, pp. 661-664
Authors:
ZYGULSKA M
EIGEL A
PIETRZYK JJ
HORST J
Citation: M. Zygulska et al., PHENYLALANINE-HYDROXYLASE GENE - A NOVEL SPLICE MUTATION IN INTRON-2 IN 2 GERMAN AND POLISH FAMILIES WITH SEVERE PHENYLKETONURIA, Human mutation, 2(3), 1993, pp. 238-239
Authors:
ZYGULSKA M
EIGEL A
PIETRZYK JJ
MINY P
HORST J
Citation: M. Zygulska et al., A NOVEL MUTATION IN EXON-8 OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE POLISH POPULATION, Human mutation, 2(1), 1993, pp. 74-76
Authors:
STEGER H
EIGEL A
FLATZ G
HORST J
Citation: H. Steger et al., HEMOGLOBIN-E AND CODON-17 NONSENSE - 2 BETA-GLOBIN GENE-MUTATIONS COMMON IN SOUTHEAST-ASIA DETECTED BY THE USE OF ARMS, Annals of hematology, 67(3), 1993, pp. 119-120
Authors:
MESCHEDE D
EIGEL A
NIESCHLAG E
HORST J
Citation: D. Meschede et al., SCREENING FOR CFTR MUTATIONS IN PATIENTS WITH CONGENITAL BILATERAL APLASIA OF THE VAS-DEFERENS, American journal of human genetics, 53(3), 1993, pp. 1153-1153
Authors:
WITTWER B
ZYGULSKA M
MINY P
EIGEL A
HORST J
Citation: B. Wittwer et al., TESTING FOR FRAGILE X-SYNDROME IN 120 FAMILIES WITH A HISTORY OF MENTAL-RETARDATION, American journal of human genetics, 53(3), 1993, pp. 1513-1513
Authors:
ZYGULSKA M
MILEWSKI M
WITTWER B
EIGEL A
BAL J
MAZURCZAK T
HORST J
Citation: M. Zygulska et al., ANALYSIS OF FMR-1-GENE MUTATIONS IN 16 POLISH FAMILIES WITH FRA-X SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1769-1769
Authors:
MESCHEDE D
EIGEL A
HORST J
NIESCHLAG E
Citation: D. Meschede et al., COMPOUND HETEROZYGOSITY FOR THE DELTA-F508 AND F508C CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) MUTATIONS IN A PATIENT WITHCONGENITAL BILATERAL APLASIA OF THE VAS-DEFERENS, American journal of human genetics, 53(1), 1993, pp. 292-293
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