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Results: 1-12 |
Results: 12
AN ASSOCIATION BETWEEN THE COMMON HEREDITARY HEMOCHROMATOSIS MUTATIONAND THE FACTOR-V-LEIDEN ALLELE IN A POPULATION WITH THROMBOSIS
Authors: XIE YG LILLICRAP DP TAYLOR SAM
Citation: Yg. Xie et al., AN ASSOCIATION BETWEEN THE COMMON HEREDITARY HEMOCHROMATOSIS MUTATIONAND THE FACTOR-V-LEIDEN ALLELE IN A POPULATION WITH THROMBOSIS, Blood, 92(4), 1998, pp. 1461-1462
EVIDENCE THAT SKEWED X-INACTIVATION IS NOT NEEDED FOR THE PHENOTYPIC-EXPRESSION OF AICARDI-SYNDROME
Authors: HOAG HM TAYLOR SAM DUNCAN AMV KHALIFA MM
Citation: Hm. Hoag et al., EVIDENCE THAT SKEWED X-INACTIVATION IS NOT NEEDED FOR THE PHENOTYPIC-EXPRESSION OF AICARDI-SYNDROME, Human genetics, 100(3-4), 1997, pp. 459-464
MUTATION OF RET CODON-768 IS ASSOCIATED WITH THE FMTC PHENOTYPE
Authors: BOCCIA LM GREEN JS JOYCE C ENG C TAYLOR SAM MULLIGAN LM
Citation: Lm. Boccia et al., MUTATION OF RET CODON-768 IS ASSOCIATED WITH THE FMTC PHENOTYPE, Clinical genetics, 51(2), 1997, pp. 81-85
ANTICIPATION AND LACK OF ASSOCIATION WITH THE HLA LOCUS IN FAMILIAL MENIERES-DISEASE
Authors: XIE YG FUNG K HALL SF LILLICRAP DP TAYLOR SAM
Citation: Yg. Xie et al., ANTICIPATION AND LACK OF ASSOCIATION WITH THE HLA LOCUS IN FAMILIAL MENIERES-DISEASE, American journal of human genetics, 61(4), 1997, pp. 2362-2362
SEVERE HEMOPHILIA-A IN A FEMALE RESULTING FROM 2 DE-NOVO FACTOR-VIII MUTATIONS
Authors: WINDSOR S LYNG A TAYLOR SAM EWENSTEIN BM NEUFELD EJ LILLICRAP D
Citation: S. Windsor et al., SEVERE HEMOPHILIA-A IN A FEMALE RESULTING FROM 2 DE-NOVO FACTOR-VIII MUTATIONS, British Journal of Haematology, 90(4), 1995, pp. 906-909
FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY
Authors: ANTONARAKIS SE ROSSITER JP YOUNG M HORST J DEMOERLOOSE P SOMMER SS KETTERLING RP KAZAZIAN HH NEGRIER C VINCIGUERRA C GITSCHIER J GOOSSENS M GIRODON E GHANEM N PLASSA F LAVERGNE JM VIDAUD M COSTA JM LAURIAN Y LIN SW LIN SR SHEN MC LILLICRAP D TAYLOR SAM WINDSOR S VALLEIX SV NAFA K SULTAN Y DELPECH M VNENCAKJONES CL PHILLIPS JA LJUNG RCR KOUMBARELIS E GIALERAKI A MANDALAKI T JENKINS PV COLLINS PW PASI KJ GOODEVE A PEAKE I PRESTON FE SCHWARTZ M SCHEIBEL E INGERSLEV J COOPER DN MILLAR DS KAKKAR VV GIANNELLI F NAYLOR JA TIZZANO EF BAIGET M DOMENECH M ALTISENT C TUSELL J BENEYTO M LORENZO JI GAUCHER C MAZURIER C PEERLINCK K MATTHIJS G CASSIMAN JJ VERMYLEN J MORI PG ACQUILA M CAPRINO D INABA H
Citation: Se. Antonarakis et al., FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY, Blood, 86(6), 1995, pp. 2206-2212
CHARACTERISTICS OF THE TRANSMISSION OF THE FMR1 GENE FROM CARRIER FEMALES IN A PROSPECTIVE SAMPLE OF CONCEPTUSES
Authors: SHERMAN SL MADDALENA A HOWARDPEEBLES PN BROWN WT NOLIN S JENKINS E SCHWARTZ C TARRELTON J SHAPIRO LR SMITS APT VANOOST BA YOUINGS S JACOBS PA MARTINEZ F BARNICOAT A HOCKEY A STALEY L HAGERMAN R KENNERKNECHT I STEINBACH P BARBI G FILIPPI G GRASSO M TAYLOR SAM ROBINSON H WEBB T BROOME D DIXON J FERREIRA P GUSTAVSON KH MEYER JL PAI GS
Citation: Sl. Sherman et al., CHARACTERISTICS OF THE TRANSMISSION OF THE FMR1 GENE FROM CARRIER FEMALES IN A PROSPECTIVE SAMPLE OF CONCEPTUSES, American journal of medical genetics, 51(4), 1994, pp. 503-506
MULTIPLEX ANALYSIS OF 2 INTRAGENIC MICROSATELLITE REPEAT POLYMORPHISMS IN THE GENETIC DIAGNOSIS OF HEMOPHILIA-A
Authors: WINDSOR S TAYLOR SAM LILLICRAP D
Citation: S. Windsor et al., MULTIPLEX ANALYSIS OF 2 INTRAGENIC MICROSATELLITE REPEAT POLYMORPHISMS IN THE GENETIC DIAGNOSIS OF HEMOPHILIA-A, British Journal of Haematology, 86(4), 1994, pp. 810-815
DIRECT-DETECTION OF A COMMON INVERSION MUTATION IN THE GENETIC DIAGNOSIS OF SEVERE HEMOPHILIA-A
Authors: WINDSOR S TAYLOR SAM LILLICRAP D
Citation: S. Windsor et al., DIRECT-DETECTION OF A COMMON INVERSION MUTATION IN THE GENETIC DIAGNOSIS OF SEVERE HEMOPHILIA-A, Blood, 84(7), 1994, pp. 2202-2205
DE-NOVO EXPANSION OF A (CAG)(N) REPEAT IN SPORADIC HUNTINGTONS-DISEASE
Authors: MYERS RH MACDONALD ME KOROSHETZ WJ DUYAO MP AMBROSE CM TAYLOR SAM BARNES G SRINIDHI J LIN CS WHALEY WL LAZZARINI AM SCHWARZ M WOLFF G BIRD ED VONSATTEL JPG GUSELLA JF
Citation: Rh. Myers et al., DE-NOVO EXPANSION OF A (CAG)(N) REPEAT IN SPORADIC HUNTINGTONS-DISEASE, Nature genetics, 5(2), 1993, pp. 168-173
A GENE FROM CHROMOSOME-4P16.3 WITH SIMILARITY TO A SUPERFAMILY OF TRANSPORTER PROTEINS
Authors: DUYAO MP TAYLOR SAM BUCKLER AJ AMBROSE CM LIN C GROOT N CHURCH D BARNES G WASMUTH JJ HOUSMAN DE MACDONALD ME GUSELLA JF
Citation: Mp. Duyao et al., A GENE FROM CHROMOSOME-4P16.3 WITH SIMILARITY TO A SUPERFAMILY OF TRANSPORTER PROTEINS, Human molecular genetics, 2(6), 1993, pp. 673-676
THE USE OF 2 INTRAGENIC DINUCLEOTIDE REPEAT POLYMORPHISMS IN GENETIC-STUDIES OF HEMOPHILIA-A
Authors: WINDSOR S TAYLOR SAM LILLICRAP D
Citation: S. Windsor et al., THE USE OF 2 INTRAGENIC DINUCLEOTIDE REPEAT POLYMORPHISMS IN GENETIC-STUDIES OF HEMOPHILIA-A, Thrombosis and haemostasis, 69(6), 1993, pp. 766-766
Risultati: 1-12 |