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Results: 1-14 |
Results: 14
IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS
Authors: SCOTT DA KRAFT ML CARMI R RAMESH A ELBEDOUR K YAIRI Y SRISAILAPATHY CRS ROSENGREN SS 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
HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION
Authors: HEANEY C SHALEV H ELBEDOUR K CARMI R STAACK JB SHEFFIELD VC BEIER DR
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
NOVEL HEXA MUTATION IN A BEDOUIN TAY-SACHS PATIENT ASSOCIATED WITH EXON SKIPPING AND REDUCED TRANSCRIPT LEVEL
Authors: DRUCKER L GOLAN A BOLES DJ ELBEDOUR K PROIA RL NAVON R
Citation: L. Drucker et al., NOVEL HEXA MUTATION IN A BEDOUIN TAY-SACHS PATIENT ASSOCIATED WITH EXON SKIPPING AND REDUCED TRANSCRIPT LEVEL, Human mutation, 9(3), 1997, pp. 260-264
CONSTRUCTION OF P1-DERIVED ARTIFICIAL CHROMOSOME AND YEAST ARTIFICIALCHROMOSOME CONTIGS ENCOMPASSING THE DFNB7 AND DFNB11 REGION OF CHROMOSOME 9Q13-21
Authors: GREINWALD JH SCOTT DA MARIETTA JR CARMI R MANALIGOD J RAMESH A ZBAR RIS KRAFT ML ELBEDOUR K YAIRI Y MUSY M SKVORAK AB VANCAMP G SRISAILAPATHY CRS LOVETT M MORTON CC SHEFFIELD VC SMITH RJH
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
FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT
Authors: WALDER RY SHALEV H BRENNAN TMH CARMI R ELBEDOUR K SCOTT DA HANAUER A MARK AL PATIL S STONE EM SHEFFIELD VC
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
IDENTIFICATION AND MUTATION ANALYSIS OF 2 COCHLEAR EXPRESSED GENES ATTHE DFNB7 11 LOCUS ON CHROMOSOME 9Q/
Authors: 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
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
Authors: WALDER RY SHALEV H CARMI R ELBEDOUR K HANAUER A PATIL S BRENNAN TMH SCOTT DA MARK AL STONE EM 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
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
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
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
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
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
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
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