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HOROWITZ M
PASMANIKCHOR M
BOROCHOWITZ Z
FALIKZACCAI T
HELDMANN K
CARMI R
PARVARI R
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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
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Citation: M. Horowitz et al., PREVALENCE OF GLUCOCEREBROSIDASE MUTATIONS IN THE ISRAELI ASHKENAZI JEWISH POPULATION, Human mutation, 12(4), 1998, pp. 240-244
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KRAFT ML
CARMI R
RAMESH A
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YAIRI Y
SRISAILAPATHY CRS
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MARKHAM AF
MUELLER RF
LENCH NJ
VANCAMP G
SMITH RJH
SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS, Human mutation, 11(5), 1998, pp. 387-394
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Citation: C. Heaney et al., HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION, Human molecular genetics (Print), 7(9), 1998, pp. 1407-1410
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VANCAMP G
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SMITH RJH
SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION AND MUTATION ANALYSIS OF A COCHLEAR-EXPRESSED, ZINC-FINGER PROTEIN GENE AT THE DFNB7 11 AND DN HEARING-LOSS-LOCI ON HUMAN-CHROMOSOME 9Q AND MOUSE-CHROMOSOME-19/, Gene, 215(2), 1998, pp. 461-469
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Citation: E. Sheiner et al., THE RELATIONSHIP BETWEEN CONGENITAL CARDIOVASCULAR MALFORMATIONS AND SPONTANEOUS-ABORTION IN PRECEDING PREGNANCY, Paediatric and perinatal epidemiology, 12(2), 1998, pp. 128-135
Citation: Vc. Sheffield et al., USE OF ISOLATED INBRED HUMAN-POPULATIONS FOR IDENTIFICATION OF DISEASE GENES, Trends in genetics, 14(10), 1998, pp. 391-396
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Citation: A. Zvulunov et al., RETICULOLINEAR APLASIA-CUTIS-CONGENITA OF THE FACE AND NECK - A DISTINCTIVE CUTANEOUS MANIFESTATION IN SEVERAL SYNDROMES LINKED TO XP22, British journal of dermatology, 138(6), 1998, pp. 1046-1052
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Citation: H. Shalev et al., CLINICAL PRESENTATION AND OUTCOME IN PRIMARY FAMILIAL HYPOMAGNESEMIA, Archives of Disease in Childhood, 78(2), 1998, pp. 127-130
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Citation: Nb. Haider et al., A BEDOUIN KINDRED WITH INFANTILE NEPHRONOPHTHISIS DEMONSTRATES LINKAGE TO CHROMOSOME 9 BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(5), 1998, pp. 1404-1410
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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
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Citation: Tmh. Brennan et al., LINKAGE OF INFANTILE BARTTER-SYNDROME WITH SENSORINEURAL DEAFNESS TO CHROMOSOME 1P, American journal of human genetics, 62(2), 1998, pp. 355-361
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CARMI R
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Citation: Jh. Greinwald et al., CONSTRUCTION OF P1-DERIVED ARTIFICIAL CHROMOSOME AND YEAST ARTIFICIALCHROMOSOME CONTIGS ENCOMPASSING THE DFNB7 AND DFNB11 REGION OF CHROMOSOME 9Q13-21, PCR methods and applications, 7(9), 1997, pp. 879-886
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CARMI R
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Citation: Ry. Walder et al., FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT, Human molecular genetics, 6(9), 1997, pp. 1491-1497
Authors:
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DUSHKIN H
BRADY KP
HER H
JACOBSON PS
SHANKAR G
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CARMI R
SHEFFIELD V
Citation: Dr. Beier et al., A NOVEL PUTATIVE TRANSPORTER IS ABSENT IN THE OSTEOSCLEROSIS (OC) MOUSE AND IS LINKED TO AUTOSOMAL RECESSIVE OSTEOPETROSIS IN HUMANS, Journal of bone and mineral research, 12, 1997, pp. 657-657
Citation: D. Landau et al., INHERITANCE OF FAMILIAL CONGENITAL ISOLATED ANORECTAL-MALFORMATIONS -CASE-REPORT AND REVIEW, American journal of medical genetics, 71(3), 1997, pp. 280-282
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COLEMAN KG
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CHANG TY
LISCUM L
STRAUSS JF
OHNO K
ZEIGLER M
CARMI R
SOKOL J
MARKIE D
ONEILL RR
VANDIGGELEN OP
ELLEDER M
PATTERSON MC
BRADY RO
VANIER MT
PENTCHEV PG
TAGLE DA
Citation: Ed. Carstea et al., NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS, Science, 277(5323), 1997, pp. 228-231
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CARMI R
SHALEV H
KANIS A
SHEFFIELD VC
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Citation: Nb. Haider et al., IDENTIFICATION OF A NOVEL TYPE OF INFANTILE NEPHRONOPHTHISIS ON CHROMOSOME-9 BY USING THE DNA POOLING STRATEGY, American journal of human genetics, 61(4), 1997, pp. 63-63
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SCOTT DA
GREINWALD JH
MARIETTA JR
SWIDERSKI RE
CARMI R
RAMESH A
KRAFT ML
ELBEDOUR K
YAIRI Y
SHVORAK AB
SRISAILAPATHY CRS
MORTON CC
SMITH RJH
SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION AND MUTATION ANALYSIS OF 2 COCHLEAR EXPRESSED GENES ATTHE DFNB7 11 LOCUS ON CHROMOSOME 9Q/, American journal of human genetics, 61(4), 1997, pp. 1713-1713
Authors:
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SHALEV H
CARMI R
ELBEDOUR K
HANAUER A
PATIL S
BRENNAN TMH
SCOTT DA
MARK AL
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SHEFFIELD VC
Citation: Ry. Walder et al., HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA (HSH) - NARROWING THE DISEASE REGION ON CHROMOSOME-9 AND MAPPING THE BREAKPOINT IN A HSH AFFECTED FEMALE WITH BALANCED X-9 TRANSLOCATION, American journal of human genetics, 61(4), 1997, pp. 1747-1747
Authors:
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OHALI M
SHALEV H
SCHLEZINGER M
MAOR E
CARMI R
Citation: D. Landau et al., IMMUNE-MEDIATED PATHOGENESIS OF FAMILIAL HYPOCOMPLEMENTEMIC HEMOLYTIC-UREMIC SYNDROME (HUS), Journal of the American Society of Nephrology, 7(9), 1996, pp. 1837-1837
Authors:
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SHALEV H
BRENNAN T
SHEFFIELD V
CARMI R
Citation: D. Landau et al., MAPPING OF AN INFANTILE VARIANT OF BARTTER-SYNDROME (IBS) TO CHROMOSOME-1, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1838-1838