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Results: 1-13 |
Results: 13
CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS
Authors: DESTEFANO AL CUPPLES LA ARNOS KS ASHER JH BALDWIN CT BLANTON S CAREY ML DASILVA EO FRIEDMAN TB GREENBERG J LALWANI AK MILUNSKY A NANCE WE PANDYA A RAMESAR RS READ AP TASSABEJHI M WILCOX ER FARRER LA
Citation: Al. Destefano et al., CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS, Human genetics, 102(5), 1998, pp. 499-506
STICKLER-LIKE SYNDROME DUE TO A DOMINANT-NEGATIVE MUTATION IN THE COL2A1 GENE
Authors: BALLO R BEIGHTON PH RAMESAR RS
Citation: R. Ballo et al., STICKLER-LIKE SYNDROME DUE TO A DOMINANT-NEGATIVE MUTATION IN THE COL2A1 GENE, American journal of medical genetics, 80(1), 1998, pp. 6-11
IN A RESOURCE-POOR COUNTRY, MUTATION IDENTIFICATION HAS THE POTENTIALTO REDUCE THE COST OF FAMILY MANAGEMENT FOR HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER
Authors: GOLDBERG PA MADDEN MV HAROCOPOS C FELIX R WESTBROOK C RAMESAR RS
Citation: Pa. Goldberg et al., IN A RESOURCE-POOR COUNTRY, MUTATION IDENTIFICATION HAS THE POTENTIALTO REDUCE THE COST OF FAMILY MANAGEMENT FOR HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER, Diseases of the colon & rectum, 41(10), 1998, pp. 1250-1253
IN A RESOURCE-POOR COUNTRY, MUTATION IDENTIFICATION HAS THE POTENTIALTO REDUCE THE COST OF FAMILY MANAGEMENT FOR HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER - REPLY
Authors: GOLDERG PA MADDEN MV HAROCOPOS C FELIX R WESTBROOK C RAMESAR RS
Citation: Pa. Golderg et al., IN A RESOURCE-POOR COUNTRY, MUTATION IDENTIFICATION HAS THE POTENTIALTO REDUCE THE COST OF FAMILY MANAGEMENT FOR HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER - REPLY, Diseases of the colon & rectum, 41(10), 1998, pp. 1254-1255
GENETIC MUTATIONS IN LATE-ONSET DOMINANT AND SPORADIC ATAXIA IN SOUTH-AFRICA
Authors: BRYER A BARDIEN S BEIGHTON P RAMESAR RS
Citation: A. Bryer et al., GENETIC MUTATIONS IN LATE-ONSET DOMINANT AND SPORADIC ATAXIA IN SOUTH-AFRICA, Annals of neurology, 42(3), 1997, pp. 141-141
EXPANDED CAG REPEATS IN SPINOCEREBELLAR ATAXIA (SCA1) SEGREGATE WITH DISTINCT HAPLOTYPES IN SOUTH-AFRICAN FAMILIES
Authors: RAMESAR RS BARDIEN S BEIGHTON P BRYER A
Citation: Rs. Ramesar et al., EXPANDED CAG REPEATS IN SPINOCEREBELLAR ATAXIA (SCA1) SEGREGATE WITH DISTINCT HAPLOTYPES IN SOUTH-AFRICAN FAMILIES, Human genetics, 100(1), 1997, pp. 131-137
MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY (VOL 68, PG 396, 1997)
Authors: BALLO R BRIGGS MD COHN DH KNOWLTON RG BEIGHTON PH RAMESAR RS
Citation: R. Ballo et al., MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY (VOL 68, PG 396, 1997), American journal of medical genetics, 71(4), 1997, pp. 494-494
MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY
Authors: BALLO R BRIGGS MD COHN DH KNOWLTON RG BEIGHTON PH RAMESAR RS
Citation: R. Ballo et al., MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY, American journal of medical genetics, 68(4), 1997, pp. 396-400
MAPPING OF THE GENE FOR CLEIDOCRANIAL DYSPLASIA IN THE HISTORICAL CAPE-TOWN (ARNOLD) KINDRED AND EVIDENCE FOR LOCUS HOMOGENEITY
Authors: RAMESAR RS GREENBERG J MARTIN R GOLIATH R BARDIEN S MUNDLOS S BEIGHTON P
Citation: Rs. Ramesar et al., MAPPING OF THE GENE FOR CLEIDOCRANIAL DYSPLASIA IN THE HISTORICAL CAPE-TOWN (ARNOLD) KINDRED AND EVIDENCE FOR LOCUS HOMOGENEITY, Journal of Medical Genetics, 33(6), 1996, pp. 511-514
MUTATIONAL BIAS PROVIDES A MODEL FOR THE EVOLUTION OF HUNTINGTONS-DISEASE AND PREDICTS A GENERAL INCREASE IN DISEASE PREVALENCE
Authors: RUBINSZTEIN DC AMOS W LEGGO J GOODBURN S RAMESAR RS OLD J BONTROP R MCMAHON R BARTON DE FERGUSONSMITH MA
Citation: Dc. Rubinsztein et al., MUTATIONAL BIAS PROVIDES A MODEL FOR THE EVOLUTION OF HUNTINGTONS-DISEASE AND PREDICTS A GENERAL INCREASE IN DISEASE PREVALENCE, Journal of Medical Genetics, 32(2), 1995, pp. 142-142
HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER (HNPCC) WHICH IS DUE TO A MUTATION IN HMLH1 AFFECTS PREDOMINANTLY MALES IN A LARGE SOUTH-AFRICAN KINDRED
Authors: RAMESAR RS MADDEN MV WESTBROOK CA
Citation: Rs. Ramesar et al., HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER (HNPCC) WHICH IS DUE TO A MUTATION IN HMLH1 AFFECTS PREDOMINANTLY MALES IN A LARGE SOUTH-AFRICAN KINDRED, American journal of human genetics, 57(4), 1995, pp. 407-407
MUTATIONAL BIAS PROVIDES A MODEL FOR THE EVOLUTION OF HUNTINGTONS-DISEASE AND PREDICTS A GENERAL INCREASE IN DISEASE PREVALENCE
Authors: RUBINSZTEIN DC AMOS W LEGGO J GOODBURN S RAMESAR RS OLD J BONTROP R MCMAHON R BARTON DE FERGUSONSMITH MA
Citation: Dc. Rubinsztein et al., MUTATIONAL BIAS PROVIDES A MODEL FOR THE EVOLUTION OF HUNTINGTONS-DISEASE AND PREDICTS A GENERAL INCREASE IN DISEASE PREVALENCE, Nature genetics, 7(4), 1994, pp. 525-530
X-LINKED OCULAR ALBINISM AND SENSORINEURAL DEAFNESS - LINKAGE TO XP22.3
Authors: WINSHIP IM BABAYA M RAMESAR RS
Citation: Im. Winship et al., X-LINKED OCULAR ALBINISM AND SENSORINEURAL DEAFNESS - LINKAGE TO XP22.3, Genomics, 18(2), 1993, pp. 444-445
Risultati: 1-13 |