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Results: 101-116/116
ON ATTITUDES AND APPRECIATION 6 MONTHS AFTER PREDICTIVE DNA TESTING FOR HUNTINGTON DISEASE IN THE DUTCH PROGRAM
Authors: TIBBEN A FRETS PG VANDEKAMP JJP NIERMEIJER MF VLIS MVD ROOS RAC ROOYMANS HGM VANOMMEN GJB VERHAGE F
Citation: A. Tibben et al., ON ATTITUDES AND APPRECIATION 6 MONTHS AFTER PREDICTIVE DNA TESTING FOR HUNTINGTON DISEASE IN THE DUTCH PROGRAM, American journal of medical genetics, 48(2), 1993, pp. 103-111
PRESYMPTOMATIC DNA-TESTING FOR HUNTINGTON DISEASE - PRETEST ATTITUDESAND EXPECTATIONS OF APPLICANTS AND THEIR PARTNERS IN THE DUTCH PROGRAM
Authors: TIBBEN A FRETS PG VANDEKAMP JJP NIERMEIJER MF VEGTERVANDERVLIS M ROOS RAC VANOMMEN GJB DUIVENVOORDEN HJ VERHAGE F
Citation: A. Tibben et al., PRESYMPTOMATIC DNA-TESTING FOR HUNTINGTON DISEASE - PRETEST ATTITUDESAND EXPECTATIONS OF APPLICANTS AND THEIR PARTNERS IN THE DUTCH PROGRAM, American journal of medical genetics, 48(1), 1993, pp. 10-16
BORDERLINE REPEAT EXPANSION IN HUNTINGTONS-DISEASE
Authors: DEROOIJ KE GANS PAMD LOSEKOOT M BAKKER E DENDUNNEN JT VEGTERVANDERVLIS M ROOS RAC VANOMMEN GJB
Citation: Ke. Derooij et al., BORDERLINE REPEAT EXPANSION IN HUNTINGTONS-DISEASE, Lancet, 342(8885), 1993, pp. 1491-1492
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .1. TRENDS ACROSS THE CLINICAL GROUPS
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D CURTIS A GINJAAR IB DENDUNNEN JT WELCH JL BUTLER TJ BAKKER E VANOMMEN GJB HARRIS JB
Citation: Lvb. Nicholson et al., INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .1. TRENDS ACROSS THE CLINICAL GROUPS, Journal of Medical Genetics, 30(9), 1993, pp. 728-736
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .2. CORRELATIONS WITHIN INDIVIDUAL PATIENTS
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D CURTIS A GINJAAR IB DENDUNNEN JT WELCH JL BUTLER TJ BAKKER E VANOMMEN GJB HARRIS JB
Citation: Lvb. Nicholson et al., INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .2. CORRELATIONS WITHIN INDIVIDUAL PATIENTS, Journal of Medical Genetics, 30(9), 1993, pp. 737-744
INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .3. DIFFERENTIAL-DIAGNOSIS AND PROGNOSIS
Authors: NICHOLSON LVB JOHNSON MA BUSHBY KMD GARDNERMEDWIN D CURTIS A GINJAAR IB DENDUNNEN JT WELCH JL BUTLER TJ BAKKER E VANOMMEN GJB HARRIS JB
Citation: Lvb. Nicholson et al., INTEGRATED STUDY OF 100 PATIENTS WITH XP21 LINKED MUSCULAR-DYSTROPHY USING CLINICAL, GENETIC, IMMUNOCHEMICAL, AND HISTOPATHOLOGICAL DATA .3. DIFFERENTIAL-DIAGNOSIS AND PROGNOSIS, Journal of Medical Genetics, 30(9), 1993, pp. 745-751
DYNAMIC MUTATION IN DUTCH HUNTINGTONS-DISEASE PATIENTS - INCREASED PATERNAL REPEAT INSTABILITY EXTENDING TO WITHIN THE NORMAL SIZE RANGE
Authors: DEROOIJ KE VEGTERVANDERVLIS M GANS PAMD SKRAASTAD MI BELFROID RDM ROOS RAC BAKKER E VANOMMEN GJB DENDUNNEN JT LOSEKOOT M
Citation: Ke. Derooij et al., DYNAMIC MUTATION IN DUTCH HUNTINGTONS-DISEASE PATIENTS - INCREASED PATERNAL REPEAT INSTABILITY EXTENDING TO WITHIN THE NORMAL SIZE RANGE, Journal of Medical Genetics, 30(12), 1993, pp. 996-1002
A GENE FOR A MYOSIN PEPTIDE IS DISRUPTED BY THE INV(16)(P13Q22) IN ACUTE NONLYMPHOCYTIC LEUKEMIA M4EO
Authors: VANDERREIJDEN BA DAUWERSE JG WESSELS JW BEVERSTOCK GC HAGEMEIJER A VANOMMEN GJB BREUNING MH
Citation: Ba. Vanderreijden et al., A GENE FOR A MYOSIN PEPTIDE IS DISRUPTED BY THE INV(16)(P13Q22) IN ACUTE NONLYMPHOCYTIC LEUKEMIA M4EO, Blood, 82(10), 1993, pp. 2948-2952
ISOLATION OF CDNAS FROM THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY REGION
Authors: FRANTS RR VANDEUTEKOM JCT ROMMENS J HEWITT JE DATSON NA VANGEEL M ROMBERG S VANOMMEN GJB PADBERG GW HOFKER MH WIJMENGA C
Citation: Rr. Frants et al., ISOLATION OF CDNAS FROM THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY REGION, American journal of human genetics, 53(3), 1993, pp. 54-54
A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME
Authors: FERRERO GB SCHAEFER L GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M CHINAULT AC NELSON D ZOGHBI HY BALLABIO A
Citation: Gb. Ferrero et al., A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME, American journal of human genetics, 53(3), 1993, pp. 59-59
GENERAL APPLICABLE PROTEIN TRUNCATION TEST (PTT) TO DETECT TRANSLATION TERMINATING MUTATIONS
Authors: ROEST PAM ROBERTS RG VANDERTUIJN AC VANOMMEN GJB DENDUNNEN JT
Citation: Pam. Roest et al., GENERAL APPLICABLE PROTEIN TRUNCATION TEST (PTT) TO DETECT TRANSLATION TERMINATING MUTATIONS, American journal of human genetics, 53(3), 1993, pp. 216-216
PFGE REVEALS THE SIZE AND PARENTAL ORIGIN OF THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY ASSOCIATED REARRANGEMENT
Authors: WIJMENGA C HOFKER MH WRIGHT TJ PADBERG GW VANOMMEN GJB HEWITT JE FRANTS RR
Citation: C. Wijmenga et al., PFGE REVEALS THE SIZE AND PARENTAL ORIGIN OF THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY ASSOCIATED REARRANGEMENT, American journal of human genetics, 53(3), 1993, pp. 240-240
CLONING THE REGION SPANNING THE INV(16) BREAKPOINT IN ACUTE NONLYMPHOCYTIC LEUKEMIA M4 EO
Authors: DAUWERSE JG WESSELS JW WIEGANT J GILES RHG HAGEMEIJER A BAAS F BEVERSTOCK G VANOMMEN GJB BREUNING MH
Citation: Jg. Dauwerse et al., CLONING THE REGION SPANNING THE INV(16) BREAKPOINT IN ACUTE NONLYMPHOCYTIC LEUKEMIA M4 EO, American journal of human genetics, 53(3), 1993, pp. 242-242
ANALYSIS OF THE EXPANDING CAG-REPEAT IN THE DUTCH HUNTINGTONS-DISEASEPATIENT POPULATION
Authors: DEROOIJ KE LOSEKOOT M GANS PAMD BELFROID RDM VANDERWIELEN MJR SKRAASTAD MI VEGTERVANDERVLIS M ROOS RAC BAKKER E DENDUNNEN JT VANOMMEN GJB
Citation: Ke. Derooij et al., ANALYSIS OF THE EXPANDING CAG-REPEAT IN THE DUTCH HUNTINGTONS-DISEASEPATIENT POPULATION, American journal of human genetics, 53(3), 1993, pp. 1247-1247
POINT MUTATION SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY (DMD) BY SSCP-ANALYSIS OF MULTIPLEX PCR PRODUCTS BY USE OF THE PHASTSYSTEM
Authors: KNEPPERS ALJ DEUTZTERLOUW PP VANOMMEN GJB BAKKER E
Citation: Alj. Kneppers et al., POINT MUTATION SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY (DMD) BY SSCP-ANALYSIS OF MULTIPLEX PCR PRODUCTS BY USE OF THE PHASTSYSTEM, American journal of human genetics, 53(3), 1993, pp. 1493-1493
CARRIER DETECTION IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLSTYPE BY DNA ANALYSIS
Authors: BERGEN AAB SCHUURMAN EJM VANDENBORN LI SAMANNS C VANDORP DB PINCKERS AJLG BAKKER E VANOMMEN GJB GAL A BLEEKERWAGEMAKERS EM
Citation: Aab. Bergen et al., CARRIER DETECTION IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLSTYPE BY DNA ANALYSIS, Clinical genetics, 41(3), 1992, pp. 135-138
Risultati: << | 101-116 |