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Results: 1-17 |
Results: 17
MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/
Authors: POPESCU T BLAZKOVA M KOZAK L JEBELEANU G POPESCU A
Citation: T. Popescu et al., MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/, Human mutation, 12(5), 1998, pp. 314-319
R395W, K497E AND P664L - 3 MISSENSE MUTATIONS IN THE LDL RECEPTOR GENE IN CZECH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: KUHROVA V KOZAK L SOSKA V FAJKUSOVA L STEJSKAL J BLAZKOVA M FREIBERGER T JURTIKOVA A
Citation: V. Kuhrova et al., R395W, K497E AND P664L - 3 MISSENSE MUTATIONS IN THE LDL RECEPTOR GENE IN CZECH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 1998, pp. 327-327
MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/
Authors: POPESCU T BLAZKOVA M KOZAK L JEBELEANU G POPESCU A
Citation: T. Popescu et al., MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/, European journal of human genetics, 6, 1998, pp. 3022-3022
MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE GENE IN CZECH AND SLOVAK GALACTOSEMIC PATIENTS
Authors: KOZAK L FRANCOVA H PIJACKOVA A SENY JU STASTNA S SPICKOVA K BZDUCH V
Citation: L. Kozak et al., MUTATIONS IN THE GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE GENE IN CZECH AND SLOVAK GALACTOSEMIC PATIENTS, European journal of human genetics, 6, 1998, pp. 4094-4094
R252W E178G PHENYLALANINE-HYDROXYLASE GENOTYPE IN A ROMANIAN NON-PKU HYPERPHENYLALANINAEMIC PATIENT/
Authors: POPESCU T POPESCU A KOZAK L BLAZKOVA M JEBELEANU G
Citation: T. Popescu et al., R252W E178G PHENYLALANINE-HYDROXYLASE GENOTYPE IN A ROMANIAN NON-PKU HYPERPHENYLALANINAEMIC PATIENT/, Acta paediatrica, 87(10), 1998, pp. 1103-1104
MUTATION AND HAPLOTYPE ANALYSIS OF PHENYLALANINE-HYDROXYLASE ALLELES IN CLASSICAL PKU PATIENTS FROM THE CZECH-REPUBLIC - IDENTIFICATION OF 4 NOVEL MUTATIONS
Authors: KOZAK L BLAZKOVA M KUHROVA V PIJACKOVA A RUZICKOVA S STASTNA S
Citation: L. Kozak et al., MUTATION AND HAPLOTYPE ANALYSIS OF PHENYLALANINE-HYDROXYLASE ALLELES IN CLASSICAL PKU PATIENTS FROM THE CZECH-REPUBLIC - IDENTIFICATION OF 4 NOVEL MUTATIONS, Journal of Medical Genetics, 34(11), 1997, pp. 893-898
CLONING, SEQUENCING AND REGULATION OF MOUSE MITOCHONDRIAL GLYCEROL-3-PHOSPHATE DEHYDROGENASE
Authors: KOZA R LEITER E MACDONALD M BROWN L KOZAK L
Citation: R. Koza et al., CLONING, SEQUENCING AND REGULATION OF MOUSE MITOCHONDRIAL GLYCEROL-3-PHOSPHATE DEHYDROGENASE, The FASEB journal, 10(6), 1996, pp. 2935-2935
FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY
Authors: CHIURAZZI P GENUARDI M KOZAK L GIOVANNUCCIUZIELLI ML BUSSANI C DAGNABRICARELLI F GRASSO M PERRONI L SEBASTIO G SPERANDEO MP OOSTRA BA NERI G
Citation: P. Chiurazzi et al., FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY, American journal of medical genetics, 64(1), 1996, pp. 209-215
TRACE-ELEMENT CONCENTRATIONS OF SELECTED SOILS AND FERTILIZERS IN SASKATCHEWAN, CANADA
Authors: MERMUT AR JAIN JC SONG L KERRICH R KOZAK L JANA S
Citation: Ar. Mermut et al., TRACE-ELEMENT CONCENTRATIONS OF SELECTED SOILS AND FERTILIZERS IN SASKATCHEWAN, CANADA, Journal of environmental quality, 25(4), 1996, pp. 845-853
DETECTION OF DELETIONS, DUPLICATIONS AND POINT MUTATIONS IN THE DYSTROPHIN GENE
Authors: FAJKUSOVA L KUHROVA V KOZAK L PEKARIK V HAJEK J FAJKUS J
Citation: L. Fajkusova et al., DETECTION OF DELETIONS, DUPLICATIONS AND POINT MUTATIONS IN THE DYSTROPHIN GENE, Chemicke listy, 90(9), 1996, pp. 674-675
PHENYLKETONURIA MUTATIONS AND THEIR RELATION TO RFLP HAPLOTYPES AT THE PAH LOCUS IN CZECH PKU FAMILIES
Authors: KOZAK L KUHROVA V BLAZKOVA M ROMANO V FAJKUSOVA L DVORAKOVA D PIJACKOVA A
Citation: L. Kozak et al., PHENYLKETONURIA MUTATIONS AND THEIR RELATION TO RFLP HAPLOTYPES AT THE PAH LOCUS IN CZECH PKU FAMILIES, Human genetics, 96(4), 1995, pp. 472-476
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY
Authors: CHIURAZZI P KOZAK L GENUARDI M GIOVANNUCCIUZIELLI ML BUSSANI C DAGNABRICARELLI F GRASSO M PERRONE L SEBASTIO G SPERANDEO MP OOSTRA BA NERI G
Citation: P. Chiurazzi et al., FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY, American journal of human genetics, 57(4), 1995, pp. 919-919
NO APPARENT INVOLVEMENT OF THE FMR1 GENE IN 5 PATIENTS WITH PHENOTYPIC MANIFESTATIONS OF THE FRAGILE-X-SYNDROME
Authors: CHIURAZZI P DEGRAAFF E NG J VERKERK AJMH WOLFSON S FISCH GS KOZAK L NERI G OOSTRA BA
Citation: P. Chiurazzi et al., NO APPARENT INVOLVEMENT OF THE FMR1 GENE IN 5 PATIENTS WITH PHENOTYPIC MANIFESTATIONS OF THE FRAGILE-X-SYNDROME, American journal of medical genetics, 51(4), 1994, pp. 309-314
UNSTABLE TRIPLETS AND THEIR MUTATIONAL MECHANISM - SIZE-REDUCTION OF THE CGG REPEAT VS GERMLINE MOSAICISM IN THE FRAGILE-X-SYNDROME
Authors: CHIURAZZI P KOZAK L NERI G
Citation: P. Chiurazzi et al., UNSTABLE TRIPLETS AND THEIR MUTATIONAL MECHANISM - SIZE-REDUCTION OF THE CGG REPEAT VS GERMLINE MOSAICISM IN THE FRAGILE-X-SYNDROME, American journal of medical genetics, 51(4), 1994, pp. 517-521
THE PHENYLKETONURIA G272X HAPLOTYPE-7 MUTATION IN EUROPEAN POPULATIONS
Authors: APOLD J EIKEN HG SVENSSON E KUNERT E KOZAK L CECHAK P GUTTLER F GILTAY J LICHTERKONECKI U MELLE D JARUZELSKA JM
Citation: J. Apold et al., THE PHENYLKETONURIA G272X HAPLOTYPE-7 MUTATION IN EUROPEAN POPULATIONS, Human genetics, 92(2), 1993, pp. 107-109
HAPLOTYPE DISTRIBUTION AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN PKU FAMILIES FROM THE MORAVIAN AREA OF CZECHOSLOVAKIA
Authors: KOZAK L DVORAKOVA D PIJACKOVA A KAMARYT J
Citation: L. Kozak et al., HAPLOTYPE DISTRIBUTION AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN PKU FAMILIES FROM THE MORAVIAN AREA OF CZECHOSLOVAKIA, Journal of inherited metabolic disease, 16(2), 1993, pp. 451-456
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3
Authors: KOZAK L CHIURAZZI P GENUARDI M POMPONI MG ZOLLINO M NERI G
Citation: L. Kozak et al., MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3, Journal of Medical Genetics, 30(10), 1993, pp. 866-869
Risultati: 1-17 |