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Results: 1-7 |
Results: 7
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY
Authors: AUSEMS MGEM BAKKER E BERGER R DURAN M VANDIGGELEN OP KEULEMANS JLM DEVALK HW KNEPPERS ALJ DORLAND L ESKES PF BEEMER FA POLLTHE BT SMEITINK JAM
Citation: Mgem. Ausems et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY, American journal of medical genetics, 68(2), 1997, pp. 236-239
THE CLINICAL AND MOLECULAR-GENETIC APPROACH TO DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - AN UPDATED PROTOCOL
Authors: VANESSEN AJ KNEPPERS ALJ VANDERHOUT AH SCHEFFER H GINJAAR IB TENKATE LP VANOMMEN GJB BUYS CHCM BAKKER E
Citation: Aj. Vanessen et al., THE CLINICAL AND MOLECULAR-GENETIC APPROACH TO DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - AN UPDATED PROTOCOL, Journal of Medical Genetics, 34(10), 1997, pp. 805-812
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION
Authors: VANDIGGELEN OP ZAREMBA J HE W KEULEMANS JLM BOER AM REUSER AJJ AUSEMS MGEM SMEITINK JAM KOWALCZYK J PRONICKA E ROKICKI D TARNOWSKADZIDUSZKO E KNEPPERS ALJ BAKKER E
Citation: Op. Vandiggelen et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION, Clinical genetics, 50(5), 1996, pp. 310-316
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD) CAUSED BY A A208T MUTATION
Authors: BAKKER E AUSEMS M ZAREMBA J KOWALCZYK J ROKICKY D KNEPPERS ALJ HE W KEULEMANS JLM SMEITINK J VANDIGGELEN OP
Citation: E. Bakker et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD) CAUSED BY A A208T MUTATION, American journal of human genetics, 57(4), 1995, pp. 1360-1360
FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES
Authors: CHRISTIAENS GCML OOSTERWIJK JC STIGTER RH DEUTZTERLOUW PP KNEPPERS ALJ BAKKER E
Citation: Gcml. Christiaens et al., FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES, Prenatal diagnosis, 14(1), 1994, pp. 51-55
DNA ANALYSIS OF BRAZILIAN DUCHENNE MUSCULAR-DYSTROPHY FAMILIES USING (CA)N MICROSATELLITE MARKERS
Authors: FALCAOCONCEICAO DN KNEPPERS ALJ BAKKER E
Citation: Dn. Falcaoconceicao et al., DNA ANALYSIS OF BRAZILIAN DUCHENNE MUSCULAR-DYSTROPHY FAMILIES USING (CA)N MICROSATELLITE MARKERS, Brazilian journal of genetics, 17(1), 1994, pp. 113-120
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
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