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Results: 1-11 |
Results: 11

Authors: ROSENBLATT A MARGOLIS RL BECHER MW AYLWARD E FRANZ ML SHERR M ABBOTT MH LIANG KY ROSS CA
Citation: A. Rosenblatt et al., DOES CAG REPEAT NUMBER PREDICT THE RATE OF PATHOLOGICAL-CHANGES IN HUNTINGTONS-DISEASE, Annals of neurology, 44(4), 1998, pp. 708-709

Authors: ROSENBLATT A RANEN NG RUBINSZTEIN DC STINE OC MARGOLIS RL WAGSTER MV BECHER MW ROSSER AE LEGGO J HODGES JR FFRENCHCONSTANT CK SHERR M FRANZ ML ABBOTT MH ROSS CA
Citation: A. Rosenblatt et al., PATIENTS WITH FEATURES SIMILAR TO HUNTINGTONS-DISEASE, WITHOUT CAG EXPANSION IN HUNTINGTIN, Neurology, 51(1), 1998, pp. 215-220

Authors: BECHER MW RUBINSZTEIN DC LEGGO J WAGSTER MV STINE OC RANEN NG FRANZ ML ABBOTT MH SHERR M MACMILLAN JC BARRON L PORTEOUS M HARPER PS ROSS CA
Citation: Mw. Becher et al., DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY (DRPLA) - CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN GENETICALLY CONFIRMED NORTH-AMERICAN AND EUROPEAN PEDIGREES, Movement disorders, 12(4), 1997, pp. 519-530

Authors: MCINTOSH L CLOUGH MV SCHAFFER AA PUFFENBERGER EG HORTON VK PETERS K ABBOTT MH ROIG CM CUTONE S OZELIUS L KWIATKOWSKI DJ PYERITZ RE BROWN LJ PAULI RM MCCORMICK MK FRANCOMANO CA
Citation: L. Mcintosh et al., FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34, American journal of human genetics, 60(1), 1997, pp. 133-142

Authors: RUBINSZTEIN DC LEGGO J COLES R ALMQVIST E BIANCALANA V CASSIMAN JJ CHOTAI K CONNARTY M CRAUFURD D CURTIS A CURTIS D DAVIDSON MJ DIFFER AM DODE C DODGE A FRONTALI M RANEN NG STINE OC SHERR M ABBOTT MH FRANZ ML GRAHAM CA HARPER PS HEDREEN JC JACKSON A KAPLAN JC LOSEKOOT M MACMILLAN JC MORRISON P TROTTIER Y NOVELLETTO A SIMPSON SA THEILMANN J WHITTAKER JL FOLSTEIN SE ROSS CA HAYDEN MR
Citation: Dc. Rubinsztein et al., PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS, American journal of human genetics, 59(1), 1996, pp. 16-22

Authors: MCINTOSH I ABBOTT MH FRANCOMANO CA
Citation: I. Mcintosh et al., CONCENTRATION OF MUTATIONS CAUSING SCHMID METAPHYSEAL CHONDRODYSPLASIA IN THE C-TERMINAL NONCOLLAGENOUS DOMAIN OF TYPE-X COLLAGEN, Human mutation, 5(2), 1995, pp. 121-125

Authors: RANEN NG STINE OC ABBOTT MH SHERR M CODORI AM FRANZ ML CHAO NI CHUNG AS PLEASANT N CALLAHAN C KASCH LM GHAFFARI M CHASE GA KAZAZIAN HH BRANDT J FOLSTEIN SE ROSS CA
Citation: Ng. Ranen et al., ANTICIPATION AND INSTABILITY OF IT-15 (CAG)(N) REPEATS IN PARENT-OFFSPRING PAIRS WITH HUNTINGTON DISEASE, American journal of human genetics, 57(3), 1995, pp. 593-602

Authors: MCINTOSH I ABBOTT MH WARMAN ML OLSEN BR FRANCOMANO CA
Citation: I. Mcintosh et al., ADDITIONAL MUTATIONS OF TYPE-X COLLAGEN CONFIRM COL10A1 AS THE SCHMIDMETAPHYSEAL CHONDRODYSPLASIA LOCUS, Human molecular genetics, 3(2), 1994, pp. 303-307

Authors: STINE OC PLEASANT N FRANZ ML ABBOTT MH FOLSTEIN SE ROSS CA
Citation: Oc. Stine et al., CORRELATION BETWEEN THE ONSET AGE OF HUNTINGTONS-DISEASE AND LENGTH OF THE TRINUCLEOTIDE REPEAT IN IT-15, Human molecular genetics, 2(10), 1993, pp. 1547-1549

Authors: LI SH SCHILLING G YOUNG WS LI XJ MARGOLIS RL STINE OC WAGSTER MV ABBOTT MH FRANZ ML RANEN NG FOLSTEIN SE HEDREEN JC ROSS CA
Citation: Sh. Li et al., HUNTINGTONS-DISEASE GENE (IT-15) IS WIDELY EXPRESSED IN HUMAN AND RAT-TISSUES, Neuron, 11(5), 1993, pp. 985-993

Authors: ABBOTT MH FRANCOMANO CA
Citation: Mh. Abbott et Ca. Francomano, SCHMID METAPHYSEAL CHONDRODYSPLASIA - CLINICAL OBSERVATIONS IN A LARGE MORMON KINDRED, American journal of human genetics, 53(3), 1993, pp. 394-394
Risultati: 1-11 |