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Results: 1-16 |
Results: 16
PREVALENCE OF GLUCOCEREBROSIDASE MUTATIONS IN THE ISRAELI ASHKENAZI JEWISH POPULATION
Authors: HOROWITZ M PASMANIKCHOR M BOROCHOWITZ Z FALIKZACCAI T HELDMANN K CARMI R PARVARI R BEITOR H GOLDMAN B PELEG L LEVYLAHAD E RENBAUM P LEGUM S SHOMRAT R YEGER H BENBENISTI D NAVON R DROR V SHOHAT M MAGAL N NAVOT N EYAL N
Citation: M. Horowitz et al., PREVALENCE OF GLUCOCEREBROSIDASE MUTATIONS IN THE ISRAELI ASHKENAZI JEWISH POPULATION, Human mutation, 12(4), 1998, pp. 240-244
2 NEW MUTATIONS IN THE 3'-CODING REGION OF THE GLYCOGEN DEBRANCHING ENZYME IN A GLYCOGEN-STORAGE-DISEASE TYPE IIIA ASHKENAZI JEWISH PATIENT
Authors: PARVARI R SHEN J HERSHKOVITZ E CHEN YT MOSES SW
Citation: R. Parvari et al., 2 NEW MUTATIONS IN THE 3'-CODING REGION OF THE GLYCOGEN DEBRANCHING ENZYME IN A GLYCOGEN-STORAGE-DISEASE TYPE IIIA ASHKENAZI JEWISH PATIENT, Journal of inherited metabolic disease, 21(2), 1998, pp. 141-148
MALE HYPOGONADISM DUE TO A MUTATION IN THE GENE FOR THE BETA-SUBUNIT OF FOLLICLE-STIMULATING-HORMONE
Authors: PHILLIP M ARBELLE JE SEGEV Y PARVARI R
Citation: M. Phillip et al., MALE HYPOGONADISM DUE TO A MUTATION IN THE GENE FOR THE BETA-SUBUNIT OF FOLLICLE-STIMULATING-HORMONE, The New England journal of medicine, 338(24), 1998, pp. 1729-1732
HOMOZYGOSITY AND LINKAGE-DISEQUILIBRIUM MAPPING OF THE SYNDROME OF CONGENITAL HYPOPARATHYROIDISM, GROWTH AND MENTAL-RETARDATION, AND DYSMORPHISM TO A 1-CM INTERVAL ON CHROMOSOME 1Q42-43
Authors: PARVARI R HERSHKOVITZ E KANIS A GORODISCHER R SHALITIN S SHEFFIELD VC CARMI R
Citation: R. Parvari et al., HOMOZYGOSITY AND LINKAGE-DISEQUILIBRIUM MAPPING OF THE SYNDROME OF CONGENITAL HYPOPARATHYROIDISM, GROWTH AND MENTAL-RETARDATION, AND DYSMORPHISM TO A 1-CM INTERVAL ON CHROMOSOME 1Q42-43, American journal of human genetics, 63(1), 1998, pp. 163-169
THE GENE FOR GLYCOGEN-STORAGE-DISEASE TYPE 1B MAPS TO CHROMOSOME 11Q23
Authors: ANNABI B HIRAIWA H MANSFIELD BC LEI KJ UBAGAI T POLYMEROPOULOS MH MOSES SW PARVARI R HERSHKOVITZ E MANDEL H FRYMAN M CHOU JY
Citation: B. Annabi et al., THE GENE FOR GLYCOGEN-STORAGE-DISEASE TYPE 1B MAPS TO CHROMOSOME 11Q23, American journal of human genetics, 62(2), 1998, pp. 400-405
A SINGLE-BASE DELETION IN THE 3'-CODING REGION OF GLYCOGEN-DEBRANCHING ENZYME IS PREVALENT IN GLYCOGEN-STORAGE-DISEASE TYPE IIIA IN A POPULATION OF NORTH-AFRICAN JEWISH PATIENTS
Authors: PARVARI R MOSES S SHEN JJ HERSHKOVITZ E LERNER A CHEN YT
Citation: R. Parvari et al., A SINGLE-BASE DELETION IN THE 3'-CODING REGION OF GLYCOGEN-DEBRANCHING ENZYME IS PREVALENT IN GLYCOGEN-STORAGE-DISEASE TYPE IIIA IN A POPULATION OF NORTH-AFRICAN JEWISH PATIENTS, European journal of human genetics, 5(5), 1997, pp. 266-270
2 NEW MUTATIONS IN THE GLUCOSE-6-PHOSPHATASE GENE CAUSE GLYCOGEN-STORAGE-DISEASE IN HUNGARIAN PATIENTS
Authors: PARVARI R LEI KJ SZONYI L NARKIS G MOSES S CHOU JY
Citation: R. Parvari et al., 2 NEW MUTATIONS IN THE GLUCOSE-6-PHOSPHATASE GENE CAUSE GLYCOGEN-STORAGE-DISEASE IN HUNGARIAN PATIENTS, European journal of human genetics, 5(4), 1997, pp. 191-195
GLYCOGEN-STORAGE-DISEASE TYPE 1A IN ISRAEL - BIOCHEMICAL, CLINICAL, AND MUTATIONAL STUDIES
Authors: PARVARI R LEI KJ BASHAN N HERSHKOVITZ E KORMAN SH BARASH V LERMANSAGIE T MANDEL H CHOU JY MOSES SW
Citation: R. Parvari et al., GLYCOGEN-STORAGE-DISEASE TYPE 1A IN ISRAEL - BIOCHEMICAL, CLINICAL, AND MUTATIONAL STUDIES, American journal of medical genetics, 72(3), 1997, pp. 286-290
ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY IN 4 SIBLINGS
Authors: SHORER Z PARVARI R BRIL G SELA BA MOSES S
Citation: Z. Shorer et al., ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY IN 4 SIBLINGS, Pediatric neurology, 15(4), 1996, pp. 340-343
PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE 1A BY SINGLE-STRANDED CONFORMATION POLYMORPHISM (SSCP)
Authors: PARVARI R HERSHKOVITZ E CARMI R MOSES S
Citation: R. Parvari et al., PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE 1A BY SINGLE-STRANDED CONFORMATION POLYMORPHISM (SSCP), Prenatal diagnosis, 16(9), 1996, pp. 862-865
PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE 1A BY SSCP ANALYSIS
Authors: MOSES S HERSHKOVITZ E CARMI R PARVARI R
Citation: S. Moses et al., PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE 1A BY SSCP ANALYSIS, Pediatric research, 39(4), 1996, pp. 868-868
RFLPS FOR LINKAGE ANALYSIS IN FAMILIES WITH GLYCOGEN-STORAGE-DISEASE TYPE-III
Authors: MISHORIDERY A BASHAN N MOSES S HERSHKOVITZ E BAO Y CHEN YT PARVARI R
Citation: A. Mishoridery et al., RFLPS FOR LINKAGE ANALYSIS IN FAMILIES WITH GLYCOGEN-STORAGE-DISEASE TYPE-III, Journal of inherited metabolic disease, 18(2), 1995, pp. 207-210
CHARACTERIZATION OF THE MUTATIONS IN THE GLUCOSE-6-PHOSPHATASE GENE IN ISRAELI PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-1A - R83C IN 6 JEWS AND A NOVEL V166G MUTATION IN A MUSLIM ARAB
Authors: PARVARI R MOSES S HERSHKOVITZ E CARMI R BASHAN N
Citation: R. Parvari et al., CHARACTERIZATION OF THE MUTATIONS IN THE GLUCOSE-6-PHOSPHATASE GENE IN ISRAELI PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-1A - R83C IN 6 JEWS AND A NOVEL V166G MUTATION IN A MUSLIM ARAB, Journal of inherited metabolic disease, 18(1), 1995, pp. 21-27
LINKAGE LOCALIZATION OF THE THORACOABDOMINAL SYNDROME (TAS) GENE TO XQ25-26
Authors: PARVARI R WEINSTEIN Y EHRLICH S STEINITZ M CARMI R
Citation: R. Parvari et al., LINKAGE LOCALIZATION OF THE THORACOABDOMINAL SYNDROME (TAS) GENE TO XQ25-26, American journal of medical genetics, 49(4), 1994, pp. 431-434
LINKAGE OF BARDET-BIEDL SYNDROME TO CHROMOSOME 16Q AND EVIDENCE FOR NON-ALLELIC GENETIC-HETEROGENEITY
Authors: KWITEKBLACK AE CARMI R DUYK GM BUETOW KH ELBEDOUR K PARVARI R YANDAVA CN STONE EM SHEFFIELD VC
Citation: Ae. Kwitekblack et al., LINKAGE OF BARDET-BIEDL SYNDROME TO CHROMOSOME 16Q AND EVIDENCE FOR NON-ALLELIC GENETIC-HETEROGENEITY, Nature genetics, 5(4), 1993, pp. 392-396
MAPPING OF AN X-LINKED GENE FOR VENTRAL MIDLINE DEFECTS (THE TAS GENE)
Authors: CARMI R PARVARI R WEINSTEIN J
Citation: R. Carmi et al., MAPPING OF AN X-LINKED GENE FOR VENTRAL MIDLINE DEFECTS (THE TAS GENE), American journal of human genetics, 53(3), 1993, pp. 984-984
Risultati: 1-16 |