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Results: 1-25 | 26-50 | 51-54
Results: 26-50/54
GENETIC AND PHYSICAL FINE-MAPPING OF THE LOCUS CAUSING BARDET-BIEDL SYNDROME IN AN INBRED BEDOUIN
Authors: KWITEKBLACK AE DOGGETT NA CARMI R GOODWIN L CHARLAT O STONE EM SHEFFIELD VC
Citation: Ae. Kwitekblack et al., GENETIC AND PHYSICAL FINE-MAPPING OF THE LOCUS CAUSING BARDET-BIEDL SYNDROME IN AN INBRED BEDOUIN, Cytogenetics and cell genetics, 72(4), 1996, pp. 15-15
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
FINE-MAPPING OF BARDET-BIEDL SYNDROME FOCUS ON CHROMOSOME-16
Authors: KWITEKBLACK AE KRIZMAN D CARMI R DOGGETT N STONE EM SHEFFIELD VC
Citation: Ae. Kwitekblack et al., FINE-MAPPING OF BARDET-BIEDL SYNDROME FOCUS ON CHROMOSOME-16, Investigative ophthalmology & visual science, 37(3), 1996, pp. 5160-5160
FAMILIAL AGGREGATION IN THE FIBROMYALGIA SYNDROME
Authors: BUSKILA D NEUMANN L HAZANOV I CARMI R
Citation: D. Buskila et al., FAMILIAL AGGREGATION IN THE FIBROMYALGIA SYNDROME, Seminars in arthritis and rheumatism, 26(3), 1996, pp. 605-611
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
AN AUTOSOMAL RECESSIVE NONSYNDROMIC-HEARING-LOSS LOCUS IDENTIFIED BY DNA POOLING USING 2 INBRED BEDOUIN KINDREDS
Authors: SCOTT DA CARMI R ELBEDOUR K YOSEFSBERG S STONE EM SHEFFIELD VC
Citation: Da. Scott et al., AN AUTOSOMAL RECESSIVE NONSYNDROMIC-HEARING-LOSS LOCUS IDENTIFIED BY DNA POOLING USING 2 INBRED BEDOUIN KINDREDS, American journal of human genetics, 59(2), 1996, pp. 385-391
A COMPLEX CHROMOSOME-TRANSLOCATION RESULTING IN DELETION 11P AND ASSOCIATED WITH UVEAL COLOBOMATA
Authors: FRILING R YASSUR Y ABELIOVICH D BIEDNER B GALIL A DAGAN J CARMI R
Citation: R. Friling et al., A COMPLEX CHROMOSOME-TRANSLOCATION RESULTING IN DELETION 11P AND ASSOCIATED WITH UVEAL COLOBOMATA, Ophthalmic genetics, 16(2), 1995, pp. 71-74
USE OF A DNA POOLING STRATEGY TO IDENTIFY A HUMAN OBESITY SYNDROME LOCUS ON CHROMOSOME-15
Authors: CARMI R ROKHLINA T KWITEKBLACK AE ELBEDOUR K NISHIMURA D STONE EM SHEFFIELD VC
Citation: R. Carmi et al., USE OF A DNA POOLING STRATEGY TO IDENTIFY A HUMAN OBESITY SYNDROME LOCUS ON CHROMOSOME-15, Human molecular genetics, 4(1), 1995, pp. 9-13
INFANTILE VARIANT OF BARTTER-SYNDROME AND SENSORINEURAL DEAFNESS - A NEW AUTOSOMAL RECESSIVE DISORDER
Authors: LANDAU D SHALEV H OHALY M CARMI R
Citation: D. Landau et al., INFANTILE VARIANT OF BARTTER-SYNDROME AND SENSORINEURAL DEAFNESS - A NEW AUTOSOMAL RECESSIVE DISORDER, American journal of medical genetics, 59(4), 1995, pp. 454-459
PHENOTYPIC DIFFERENCES AMONG PATIENTS WITH BARDET-BIEDL-SYNDROME LINKED TO 3 DIFFERENT CHROMOSOME LOCI
Authors: CARMI R ELBEDOUR K STONE EM SHEFFIELD VC
Citation: R. Carmi et al., PHENOTYPIC DIFFERENCES AMONG PATIENTS WITH BARDET-BIEDL-SYNDROME LINKED TO 3 DIFFERENT CHROMOSOME LOCI, American journal of medical genetics, 59(2), 1995, pp. 199-203
EVALUATION OF AN EFFICIENT APPROACH TO DISEASE GENE-MAPPING - APPLICATION TO BARDET-BIEDL SYNDROME
Authors: SHEFFIELD VC BLACK AEK NISHIMURA DY CARMI R SUNDEN SL STONE EM
Citation: Vc. Sheffield et al., EVALUATION OF AN EFFICIENT APPROACH TO DISEASE GENE-MAPPING - APPLICATION TO BARDET-BIEDL SYNDROME, Investigative ophthalmology & visual science, 36(4), 1995, pp. 774-774
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
IDENTIFICATION OF POLYMORPHIC MARKERS FOR THE Y-CHROMOSOME NOD THE USE OF THESE MARKERS TO DETERMINE THE NUMBER OF MALE FOUNDERS IN ISOLATED POPULATIONS
Authors: NYSTUEN A BUSINGA T CARMI R DUYK GM SHEFFIELD VC
Citation: A. Nystuen et al., IDENTIFICATION OF POLYMORPHIC MARKERS FOR THE Y-CHROMOSOME NOD THE USE OF THESE MARKERS TO DETERMINE THE NUMBER OF MALE FOUNDERS IN ISOLATED POPULATIONS, American journal of human genetics, 57(4), 1995, pp. 123-123
GENETIC AND PHYSICAL FINE-MAPPING OF THE HETEROGENEOUS BARDET-BIEDL SYNDROME
Authors: KWITEKBLACK AW HAIDER N CARMI R DOGGETT N CHARLAT O NISHIMURA DY STONE EM SHEFFIELD VC
Citation: Aw. Kwitekblack et al., GENETIC AND PHYSICAL FINE-MAPPING OF THE HETEROGENEOUS BARDET-BIEDL SYNDROME, American journal of human genetics, 57(4), 1995, pp. 294-294
NONSYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS IS LINKED TO THE DFNB1 LOCUS IN A LARGE INBRED BEDOUIN FAMILY FROM ISRAEL
Authors: SCOTT DA CARMI R ELBEDOUR K DUYK GM STONE EM SHEFFIELD VC
Citation: Da. Scott et al., NONSYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS IS LINKED TO THE DFNB1 LOCUS IN A LARGE INBRED BEDOUIN FAMILY FROM ISRAEL, American journal of human genetics, 57(4), 1995, pp. 965-968
IDENTIFICATION OF A BARDET-BIEDL-SYNDROME LOCUS ON CHROMOSOME-3 AND EVALUATION OF AN EFFICIENT APPROACH TO HOMOZYGOSITY MAPPING
Authors: SHEFFIELD VC CARMI R KWITEKBLACK A ROKHLINA T NISHIMURA D DUYK GM ELBEDOUR K SUNDEN SL STONE EM
Citation: Vc. Sheffield et al., IDENTIFICATION OF A BARDET-BIEDL-SYNDROME LOCUS ON CHROMOSOME-3 AND EVALUATION OF AN EFFICIENT APPROACH TO HOMOZYGOSITY MAPPING, Human molecular genetics, 3(8), 1994, pp. 1331-1335
PRENATAL-DIAGNOSIS OF BARTTER-SYNDROME
Authors: SHALEV H OHALY M MEIZNER I CARMI R
Citation: H. Shalev et al., PRENATAL-DIAGNOSIS OF BARTTER-SYNDROME, Prenatal diagnosis, 14(10), 1994, pp. 996-998
(-(S)-DIHYDROAERUGINOIC ACID, AN INHIBITOR OF SEPTORIA-TRITICI AND OTHER PHYTOPATHOGENIC FUNGI AND BACTERIA, PRODUCED BY PSEUDOMONAS-FLUORESCENS())
Authors: CARMI R CARMELI S LEVY E GOUGH FJ
Citation: R. Carmi et al., (-(S)-DIHYDROAERUGINOIC ACID, AN INHIBITOR OF SEPTORIA-TRITICI AND OTHER PHYTOPATHOGENIC FUNGI AND BACTERIA, PRODUCED BY PSEUDOMONAS-FLUORESCENS()), Journal of natural products, 57(9), 1994, pp. 1200-1205
CARDIAC ABNORMALITIES IN THE BARDET-BIEDL-SYNDROME - ECHOCARDIOGRAPHIC STUDIES OF 22 PATIENTS
Authors: ELBEDOUR K ZUCKER N ZALZSTEIN E BARKI Y CARMI R
Citation: K. Elbedour et al., CARDIAC ABNORMALITIES IN THE BARDET-BIEDL-SYNDROME - ECHOCARDIOGRAPHIC STUDIES OF 22 PATIENTS, American journal of medical genetics, 52(2), 1994, pp. 164-169
SPONTANEOUS-ABORTION - HIGH-RISK FACTOR FOR NEURAL-TUBE DEFECTS IN SUBSEQUENT PREGNANCY
Authors: CARMI R GOHAR J MEIZNER I KATZ M
Citation: R. Carmi et al., SPONTANEOUS-ABORTION - HIGH-RISK FACTOR FOR NEURAL-TUBE DEFECTS IN SUBSEQUENT PREGNANCY, American journal of medical genetics, 51(2), 1994, pp. 93-97
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
HOMOZYGOSITY MAPPING OF THE GENE FOR BARDET-BIEDL SYNDROME IN LARGE INBRED FAMILIES
Authors: SHEFFIELD VC KWITEKBLACK A CARMI R DUYK GM ROKHLINA T STONE EM
Citation: Vc. Sheffield et al., HOMOZYGOSITY MAPPING OF THE GENE FOR BARDET-BIEDL SYNDROME IN LARGE INBRED FAMILIES, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1718-1718
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
PRENATAL ULTRASOUND DIAGNOSIS OF A RARE OCCURRENCE OF LETHAL MULTIPLEPTERYGIUM SYNDROME IN 2 SIBLINGS
Authors: MEIZNER I HERSHKOVITZ R CARMI R KATZ M
Citation: I. Meizner et al., PRENATAL ULTRASOUND DIAGNOSIS OF A RARE OCCURRENCE OF LETHAL MULTIPLEPTERYGIUM SYNDROME IN 2 SIBLINGS, Ultrasound in obstetrics & gynecology, 3(6), 1993, pp. 432-436
NEW FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) IN JEWISH FAMILY OF IRAQI ORIGIN
Authors: SHOHAT M LACHMAN R CARMI R BARZIV J RIMOIN D
Citation: M. Shohat et al., NEW FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) IN JEWISH FAMILY OF IRAQI ORIGIN, American journal of medical genetics, 46(4), 1993, pp. 358-362
Risultati: 1-25 | 26-50 | 51-54