Citation: Pj. Scambler, REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-22 MAPPING 1994, Cytogenetics and cell genetics, 67(4), 1994, pp. 278-286
Authors:
COLLINS JE
COLE CR
SMINK LJ
GARRETT CL
COFFEY AJ
GREGORY SG
DAVIES AF
HASSOCK S
TODD CM
DUMANSKI JP
SCAMBLER PJ
KIM UJ
MASLEN GL
SODERLUND C
DURBIN R
BENTLEY DR
DUNHAM I
Citation: Je. Collins et al., TOWARDS A FULLY INTEGRATED, HIGH-RESOLUTION PHYSICAL MAP OF CHROMOSOME-22, Cytogenetics and cell genetics, 67(4), 1994, pp. 291-292
Authors:
FRANKE UC
SCAMBLER PJ
LOFFLER C
LONS P
HANEFELD F
ZOLL B
HANSMANN I
Citation: Uc. Franke et al., INTERSTITIAL DELETION OF 22Q11 IN DIGEORGE-SYNDROME DETECTED BY HIGH-RESOLUTION AND MOLECULAR ANALYSIS, Clinical genetics, 46(2), 1994, pp. 187-192
Authors:
RAMSAY M
WILLIAMSON R
ESTIVILL X
WAINWRIGHT BJ
HO MF
HALFORD S
KERE J
SAVILAHTI E
DELACHAPELLE A
SCHWARTZ M
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SUPER M
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MEREDITH L
ALJADER L
FEREC C
CLAUSTRES M
CASALS T
NUNES V
GASPARINI P
SAVOIA A
PIGNATTI PF
NOVELLI G
GENNARELLI M
DALLAPICCOLA B
KALAYDJIEVA L
SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993), Human molecular genetics, 2(9), 1993, pp. 1523-1523
Authors:
RAMSAY M
WILLIAMSON R
ESTIVILL X
WAINWRIGHT BJ
HO MF
HALFORD S
KERE J
SAVILAHTI E
DELACHAPELLE A
SCHWARTZ M
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SUPER M
FARNDON P
HARDING C
MEREDITH L
ALJADER L
FEREC C
CLAUSTRES M
CASALS T
NUNES V
GASPARINI P
SAVOIA A
PIGNATTI PF
NOVELLI G
BENNARELLI M
DALLAPICCOLA B
KALAYDJIEVA L
SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS, Human molecular genetics, 2(7), 1993, pp. 1007-1014
Authors:
HALFORD S
WADEY R
ROBERTS C
DAW SCM
WHITING JA
ODONNELL H
DUNHAM I
BENTLEY D
LINDSAY E
BALDINI A
FRANCIS F
LEHRACH H
WILLIAMSON R
WILSON DI
GOODSHIP J
CROSS I
BURNS J
SCAMBLER PJ
Citation: S. Halford et al., ISOLATION OF A PUTATIVE TRANSCRIPTIONAL REGULATOR FROM THE REGION OF 22Q11 DELETED IN DIGEORGE-SYNDROME, SHPRINTZEN SYNDROME AND FAMILIAL CONGENITAL HEART-DISEASE, Human molecular genetics, 2(12), 1993, pp. 2099-2107
Authors:
HALFORD S
WILSON DI
DAW SCM
ROBERTS C
WADEY R
KAMATH S
WICKREMASINGHE A
BURN J
GOODSHIP J
MATTEI MG
MOORMON AFM
SCAMBLER PJ
Citation: S. Halford et al., ISOLATION OF A GENE EXPRESSED DURING EARLY EMBRYOGENESIS FROM THE REGION OF 22Q11 COMMONLY DELETED IN DIGEORGE-SYNDROME, Human molecular genetics, 2(10), 1993, pp. 1577-1582
Authors:
LINDSAY EA
HALFORD S
WADEY R
SCAMBLER PJ
BALDINI A
Citation: Ea. Lindsay et al., MOLECULAR CYTOGENETIC CHARACTERIZATION OF THE DIGEORGE-SYNDROME REGION USING FLUORESCENCE IN-SITU HYBRIDIZATION, Genomics, 17(2), 1993, pp. 403-407
Authors:
WADEY R
DAW S
WICKREMASINGHE A
ROBERTS C
WILSON D
GOODSHIP J
BURN J
HALFORD S
SCAMBLER PJ
Citation: R. Wadey et al., ISOLATION OF A NEW MARKER AND CONSERVED SEQUENCES CLOSE TO THE DIGEORGE-SYNDROME MARKER HP500 (D22S134), Journal of Medical Genetics, 30(10), 1993, pp. 818-821
Citation: Se. Holder et al., VELOCARDIOFACIAL SYNDROME IN A MOTHER AND DAUGHTER - VARIABILITY OF THE CLINICAL PHENOTYPE, Journal of Medical Genetics, 30(10), 1993, pp. 825-827
Authors:
FRYDMAN M
FINKELSTEIN Y
RAVIA Y
SCAMBLER PJ
GOLDMAN B
Citation: M. Frydman et al., VELO-CARDIO-FACIAL SYNDROME (VCFS) - CLINICAL-STUDIES IN 27 PATIENTS AND PRELIMINARY-RESULTS OF MOLECULAR ANALYSIS, American journal of human genetics, 53(3), 1993, pp. 435-435
Authors:
LINDSAY EA
GREENBERG F
PAGE S
SHAFFER LG
SCAMBLER PJ
BALDINI A
Citation: Ea. Lindsay et al., SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELIMITATION OF THE COMMONLY DELETED REGION, American journal of human genetics, 53(3), 1993, pp. 1195-1195