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Results: 1-8 |
Results: 8
EVALUATION OF MENTAL-RETARDATION - RECOMMENDATIONS OF A CONSENSUS CONFERENCE
Authors: CURRY CJ STEVENSON RE AUGHTON D BYRNE J CAREY JC CASSIDY S CUNNIFF C GRAHAM JM JONES MC KABACK MM MOESCHLER J SCHAEFER GB SCHWARTZ S TARLETON J OPITZ J
Citation: Cj. Curry et al., EVALUATION OF MENTAL-RETARDATION - RECOMMENDATIONS OF A CONSENSUS CONFERENCE, American journal of medical genetics, 72(4), 1997, pp. 468-477
NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE
Authors: AKERMAN BR NATOWICZ MR KABACK MM LOYER M CAMPEAU E GRAVEL RA
Citation: Br. Akerman et al., NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE, American journal of human genetics, 60(5), 1997, pp. 1099-1106
THE CARRIER FREQUENCY OF THE BRCA1 185DELAG MUTATION IS APPROXIMATELY1 PERCENT IN ASHKENAZI JEWISH INDIVIDUALS (VOL 11, PG 198, 1995)
Authors: STRUEWING JP ABELIOVICH D PERETZ T AVISHAI N KABACK MM COLLINS FS BRODY LC
Citation: Jp. Struewing et al., THE CARRIER FREQUENCY OF THE BRCA1 185DELAG MUTATION IS APPROXIMATELY1 PERCENT IN ASHKENAZI JEWISH INDIVIDUALS (VOL 11, PG 198, 1995), Nature genetics, 12(1), 1996, pp. 110-110
GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT
Authors: MCCABE ERB FINE BA GOLBUS MS GREENHOUSE JB MCGRATH GL NEW M OBRIEN WE ROWLEY PT SLY WS SPENCE MA STOCKMAN JA WHYTE M WILSON W WOLF B AERTS JMFG BARRANGER JA BARTON NW BEUTLER E BRADY RO COX TM EKSTEIN J ENG CM ERIKSON A FINDLING DM GARBER AM GINNS EI GRABOWSKI GA HILL SC HOLLACK CEM KABACK MM LEE RE MANKIN HJ MISTRY PK MOSCICKI RA MURRAY GJ NATOWICZ M PASTORES GM MIRANDA MCS SIDRANSKY E WARE JE WILLEMSEN R ZAIZOV R ZIMRAN A BEITINS IZ BERMAN RE ELLIOTT JM FERGUSON JH HALL WH MCKEON C NITKIN RM SCHLESINGER SL SHERIDAN PH WEEKS M COWDRY RW ALEXANDER DF GORDEN P HALL ZW VAITUKAITIS JL COLLINS FS GROFT S
Citation: Erb. Mccabe et al., GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT, JAMA, the journal of the American Medical Association, 275(7), 1996, pp. 548-553
THE CARRIER FREQUENCY OF THE BRCA1 185DELAG MUTATION IS APPROXIMATELY1 PERCENT IN ASHKENAZI-JEWISH INDIVIDUALS
Authors: STRUEWING JP ABELIOVICH D PERETZ T AVISHAI N KABACK MM COLLINS FS BRODY LC
Citation: Jp. Struewing et al., THE CARRIER FREQUENCY OF THE BRCA1 185DELAG MUTATION IS APPROXIMATELY1 PERCENT IN ASHKENAZI-JEWISH INDIVIDUALS, Nature genetics, 11(2), 1995, pp. 198-200
A NOVEL MUTATION AT THE INVARIANT ACCEPTOR SPLICE-SITE OF INTRON-9 INTHE HEXA GENE [IVS9-1-G-]T] DETECTED BY A PCR-BASED DIAGNOSTIC-TEST
Authors: BROWN DH TRIGGSRAINE BL MCGINNISS MJ KABACK MM
Citation: Dh. Brown et al., A NOVEL MUTATION AT THE INVARIANT ACCEPTOR SPLICE-SITE OF INTRON-9 INTHE HEXA GENE [IVS9-1-G-]T] DETECTED BY A PCR-BASED DIAGNOSTIC-TEST, Human mutation, 5(2), 1995, pp. 173-174
FURTHER INVESTIGATION OF THE HEXA GENE INTRON-9 DONOR SPLICE-SITE MUTATION FREQUENTLY FOUND IN NON-JEWISH TAY-SACHS-DISEASE PATIENTS FROM THE BRITISH-ISLES
Authors: LANDELS EC GREEN PM ELLIS IH FENSOM AH KABACK MM LIMSTEELE J ZEIGER K LEVY N BOBROW M
Citation: Ec. Landels et al., FURTHER INVESTIGATION OF THE HEXA GENE INTRON-9 DONOR SPLICE-SITE MUTATION FREQUENTLY FOUND IN NON-JEWISH TAY-SACHS-DISEASE PATIENTS FROM THE BRITISH-ISLES, Journal of Medical Genetics, 30(6), 1993, pp. 479-481
A SECOND MUTATION ASSOCIATED WITH APPARENT BETA-HEXOSAMINIDASE-A PSEUDODEFICIENCY - IDENTIFICATION AND FREQUENCY ESTIMATION
Authors: CAO Z NATOWICZ MR KABACK MM LIMSTEELE JST PRENCE EM BROWN D CHABOT T TRIGGSRAINE BL
Citation: Z. Cao et al., A SECOND MUTATION ASSOCIATED WITH APPARENT BETA-HEXOSAMINIDASE-A PSEUDODEFICIENCY - IDENTIFICATION AND FREQUENCY ESTIMATION, American journal of human genetics, 53(6), 1993, pp. 1198-1205
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