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Results: 1-24 |
Results: 24

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

Authors: SCHUFFENHAUER S LICHTNER P PEYKARDERAKHSHANDEH P MURKEN J HAAS OA BACK E WOLFF G ZABEL B BARISIC I RAUCH A BOROCHOWITZ Z DALLAPICCOLA B ROSS M MEITINGER T
Citation: S. Schuffenhauer et al., DELETION MAPPING ON CHROMOSOME 10P AND DEFINITION OF A CRITICAL REGION FOR THE 2ND DIGEORGE-SYNDROME LOCUS (DGS2), European journal of human genetics, 6(3), 1998, pp. 213-225

Authors: ZACCAI F TZIPORA C SHACHAK E COHN N BADARNY S HONIGMANN S BOROCHOWITZ Z GILADI N
Citation: F. Zaccai et al., PRIMARY TORSION DYSTONIA, OPPENHEIMS TYPE - MOLECULAR CHARACTERIZATION OF THE DISEASE AMONG DIFFERENT ETHNIC-GROUPS IN ISRAEL, European journal of human genetics, 6, 1998, pp. 4019-4019

Authors: BOROCHOWITZ Z SABO E MISSELEVITCH I BOSS JH
Citation: Z. Borochowitz et al., AUTOSOMAL-RECESSIVE OMODYSPLASIA - PRENATAL-DIAGNOSIS AND HISTOMORPHOMETRIC ASSESSMENT OF THE PHYSEAL PLATES OF THE LONG BONES, American journal of medical genetics, 76(3), 1998, pp. 238-244

Authors: PAZNEKAS WA CUNNINGHAM ML HOWARD TD KORF BR LIPSON MH GRIX AW FEINGOLD M GOLDBERG R BOROCHOWITZ Z ALECK K MULLIKEN J YIN MF JABS EW
Citation: Wa. Paznekas et al., GENETIC-HETEROGENEITY OF SAETHRE-CHOTZEN-SYNDROME, DUE TO TWIST AND FGFR MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1370-1380

Authors: BOROCHOWITZ Z SHALEV SA YEHUDAI I BAREL H DAR H TIROSH E
Citation: Z. Borochowitz et al., DELETION (4)(Q33-]QTER) - A CASE-REPORT AND REVIEW OF THE LITERATURE, Journal of child neurology, 12(5), 1997, pp. 335-337

Authors: KUGELMAN A HADAD B BENDAVID J PODOSHIN L BOROCHOWITZ Z BADER D
Citation: A. Kugelman et al., PREAURICULAR TAGS AND PITS IN THE NEWBORN - THE ROLE OF HEARING TESTS, Acta paediatrica, 86(2), 1997, pp. 170-172

Authors: SHAPIRA M DAR H BAREL H BARNITZAN N EVEN L BOROCHOWITZ Z
Citation: M. Shapira et al., INHERITED INVERTED DUPLICATION OF X-CHROMOSOME IN A MALE - REPORT OF A PATIENT AND REVIEW OF THE LITERATURE, American journal of medical genetics, 72(4), 1997, pp. 409-414

Authors: FALIKZACCAI TC SHACHAK E COHEN N HONIGMAN S BOROCHOWITZ Z GILADI N
Citation: Tc. Falikzaccai et al., IDIOPATHIC TORSION DYSTONIA (ITD) - MOLECULAR-GENETIC ANALYSIS OF ASHKENAZI JEWS AND SEPHARDIC JEWS IN ISRAEL, Neurology, 48(3), 1997, pp. 6087-6087

Authors: FALIKZACCAI TC SHACHAK E YALON M LIS Z BOROCHOWITZ Z MACPHERSON JN NELSON DL EICHLER EE
Citation: Tc. Falikzaccai et al., PREDISPOSITION TO THE FRAGILE-X-SYNDROME IN JEWS OF TUNISIAN DESCENT IS DUE TO THE ABSENCE OF AGG INTERRUPTIONS ON A RARE MEDITERRANEAN HAPLOTYPE, American journal of human genetics, 60(1), 1997, pp. 103-112

Authors: GERSHONIBARUCH R MANDEL H EL HB BARNIZAN N BOROCHOWITZ Z DAR H
Citation: R. Gershonibaruch et al., INTERSTITIAL DELETION (6)Q13Q15, American journal of medical genetics, 62(4), 1996, pp. 345-347

Authors: SHALEV SA DAR H BAREL H BOROCHOWITZ Z
Citation: Sa. Shalev et al., UPPER-LIMB MALFORMATIONS IN CHROMOSOME 22Q11 DELETIONS, American journal of medical genetics, 62(3), 1996, pp. 302-302

Authors: DAVID M ISRAEL N MERKSAMER R BARNIZAN N BOROCHOWITZ Z BAREL H YEHUDAI I DAR H
Citation: M. David et al., VERY-LOW MATERNAL SERUM UNCONJUGATED ESTRIOL AND PRENATAL-DIAGNOSIS OF STEROID SULFATASE DEFICIENCY, Fetal diagnosis and therapy, 10(2), 1995, pp. 76-80

Authors: FALIKBORENSTEIN TC HOLMES SA BOROCHOWITZ Z LEVIN A ROSENMANN A SPRITZ RA
Citation: Tc. Falikborenstein et al., DNA-BASED CARRIER DETECTION AND PRENATAL-DIAGNOSIS OF TYROSINASE-NEGATIVE OCULOCUTANEOUS ALBINISM (OCA1A), Prenatal diagnosis, 15(4), 1995, pp. 345-349

Authors: BOROCHOWITZ Z BARAK M HERSHKOWITZ S
Citation: Z. Borochowitz et al., NOSOLOGY OF OMODYSPLASIA, American journal of medical genetics, 58(4), 1995, pp. 377-377

Authors: SHOHAT M LEGUM C ROMEM Y BOROCHOWITZ Z BACH G GOLDMAN B
Citation: M. Shohat et al., DOWN-SYNDROME PREVENTION PROGRAM IN A POPULATION WITH AN OLDER MATERNAL AGE, Obstetrics and gynecology, 85(3), 1995, pp. 368-373

Authors: DAR H SCHAAP T BAITOR H BOROCHOWITZ Z GELMANKOHAN Z CHEMKE T CHAKI R COHEN H FALIKBORENSTEIN Z CHEMKE J
Citation: H. Dar et al., ETHNIC DISTRIBUTION OF THE FRAGILE-X SYNDROME IN ISRAEL - EVIDENCE OFFOUNDER CHROMOSOMES(), Israel journal of medical sciences, 31(5), 1995, pp. 323-325

Authors: FALIKBORENSTEIN TC YALON M SHACHAK L DAR C BOROCHOWITZ Z NELSON DL MACPHERSON JN EICHLER EE
Citation: Tc. Falikborenstein et al., LONG UNINTERRUPTED CGG REPEATS WITHIN THE FMR1 GENE - POSSIBLE MECHANISM FOR THE PREVALENCE OF THE FRAGILE-X SYNDROME AMONG TUNISIAN JEWS, American journal of human genetics, 57(4), 1995, pp. 1218-1218

Authors: SHAPIRA M BOROCHOWITZ Z BAREL H DAR H ETZIONI A LORBER A
Citation: M. Shapira et al., DELETION OF THE SHORT ARM, OF CHROMOSOME-10 (10P13) - REPORT OF A PATIENT AND REVIEW, American journal of medical genetics, 52(1), 1994, pp. 34-38

Authors: BRONSTEIN M REICHLER A BOROCHOWITZ Z BEJAR J DRUGAN A
Citation: M. Bronstein et al., EARLY PRENATAL-DIAGNOSIS OF POLYCYSTIC PANCREAS WITH NARROW THORAX AND SHORT LIMB DWARFISM, American journal of medical genetics, 49(1), 1994, pp. 6-9

Authors: BOROCHOWITZ Z PAVONE L MAZOR G RIZZO R DAR H
Citation: Z. Borochowitz et al., FACIO-CUTANEOUS-SKELETAL SYNDROME - NEW NOSOLOGICAL ENTITY OR COSTELLO SYNDROME, American journal of medical genetics, 47(2), 1993, pp. 173-173

Authors: ZLOTOGORA J FUKS A BOROCHOWITZ Z TAL Y
Citation: J. Zlotogora et al., KOHLSCHUTTER-TONZ SYNDROME - EPILEPSY, DEMENTIA, AND AMELOGENESIS-IMPERFECTA, American journal of medical genetics, 46(4), 1993, pp. 453-454

Authors: BOROCHOWITZ Z
Citation: Z. Borochowitz, SHORT STATURE, METAPHYSEAL INFRACTIONS, WORMIAN BONES, SHORT FINGERS AND SEVERE OSTEOPENIA - A RATHER NEW FAMILIAL AUTOSOMAL RECESSIVE BONEDYSPLASIA, American journal of human genetics, 53(3), 1993, pp. 408-408

Authors: ZIV Y FRYDMAN M LANGE E ZELNIK N ROTMAN G JULIER C JASPERS NGJ DAGAN Y ABELIOVICZ D DAR H BOROCHOWITZ Z LATHROP M GATTI RA SHILOH Y
Citation: Y. Ziv et al., ATAXIA-TELANGIECTASIA - LINKAGE ANALYSIS IN HIGHLY INBRED ARAB AND DRUZE FAMILIES AND DIFFERENTIATION FROM AN ATAXIA-MICROCEPHALY-CATARACT SYNDROME, Human genetics, 88(6), 1992, pp. 619-626
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