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Results: 1-8 |
Results: 8
MUTATIONAL ANALYSIS AND EXPRESSION STUDIES OF THE NEUROFIBROMATOSIS TYPE-2 (NF2) GENE IN A PATIENT WITH A RING CHROMOSOME-22 AND NF2
Authors: KEHRERSAWATZKI H UDART M KRONE W BADEN R FAHSOLD R THOMAS G SCHMUCKER B ASSUM G
Citation: H. Kehrersawatzki et al., MUTATIONAL ANALYSIS AND EXPRESSION STUDIES OF THE NEUROFIBROMATOSIS TYPE-2 (NF2) GENE IN A PATIENT WITH A RING CHROMOSOME-22 AND NF2, Human genetics, 100(1), 1997, pp. 67-74
SUBCELLULAR-LOCALIZATION AND EXPRESSION PATTERN OF THE NEUROFIBROMATOSIS TYPE-2 PROTEIN MERLIN SCHWANNOMIN/
Authors: SCHMUCKER B BALLHAUSEN WG KRESSEL M
Citation: B. Schmucker et al., SUBCELLULAR-LOCALIZATION AND EXPRESSION PATTERN OF THE NEUROFIBROMATOSIS TYPE-2 PROTEIN MERLIN SCHWANNOMIN/, European journal of cell biology, 72(1), 1997, pp. 46-53
MEIOTIC MICRODELETION BREAKPOINTS IN THE BRCA1 GENE ARE SIGNIFICANTLYASSOCIATED WITH SYMMETRICAL DNA-SEQUENCE ELEMENTS
Authors: SCHMUCKER B KRAWCZAK M
Citation: B. Schmucker et M. Krawczak, MEIOTIC MICRODELETION BREAKPOINTS IN THE BRCA1 GENE ARE SIGNIFICANTLYASSOCIATED WITH SYMMETRICAL DNA-SEQUENCE ELEMENTS, American journal of human genetics, 61(6), 1997, pp. 1454-1456
MOSAICISM OF A MICRODELETION OF 486-BP INVOLVING THE CGG REPEAT OF THE FMR1 GENE DUE TO MISALIGNMENT OF GTT TANDEM REPEATS AT CHI-LIKE ELEMENTS FLANKING BOTH BREAKPOINTS AND A FULL MUTATION
Authors: SCHMUCKER B BALLHAUSEN WG PFEIFFER RA
Citation: B. Schmucker et al., MOSAICISM OF A MICRODELETION OF 486-BP INVOLVING THE CGG REPEAT OF THE FMR1 GENE DUE TO MISALIGNMENT OF GTT TANDEM REPEATS AT CHI-LIKE ELEMENTS FLANKING BOTH BREAKPOINTS AND A FULL MUTATION, Human genetics, 98(4), 1996, pp. 409-414
2 BROTHERS WITH MULTIPLE CONGENITAL-ANOMALIES AND MENTAL-RETARDATION DUE TO DISOMY (X)(Q12-]Q13.3) INHERITED FROM THE MOTHER
Authors: APACIK C COHEN M JAKOBEIT M SCHMUCKER B SCHUFFENHAUER B UNDTAXIS ET GENZELBOROVICZENY O STENGELRUTKOWSKI S
Citation: C. Apacik et al., 2 BROTHERS WITH MULTIPLE CONGENITAL-ANOMALIES AND MENTAL-RETARDATION DUE TO DISOMY (X)(Q12-]Q13.3) INHERITED FROM THE MOTHER, Clinical genetics, 50(2), 1996, pp. 63-73
SUBCELLULAR-LOCALIZATION OF NEUROFIBROMATOSIS TYPE-2 PROTEIN MERLIN IN HUMAN FIBROBLASTS
Authors: SCHMUCKER B KRESSEL M
Citation: B. Schmucker et M. Kressel, SUBCELLULAR-LOCALIZATION OF NEUROFIBROMATOSIS TYPE-2 PROTEIN MERLIN IN HUMAN FIBROBLASTS, American journal of human genetics, 57(4), 1995, pp. 412-412
THE HEMODYNAMIC-EFFECTS OF ISOMETRIC-EXERCISE DURING LATE NORMAL-PREGNANCY
Authors: VANHOOK JW GILL P EASTERLING TR SCHMUCKER B CARLSON K BENEDETTI TJ
Citation: Jw. Vanhook et al., THE HEMODYNAMIC-EFFECTS OF ISOMETRIC-EXERCISE DURING LATE NORMAL-PREGNANCY, American journal of obstetrics and gynecology, 169(4), 1993, pp. 870-873
BREAKPOINT ANALYSIS, XIST EXPRESSION AND X-INACTIVATION STUDY IN A XQPROXIMAL INTERSTITIAL DUPLICATION INVOLVING THE X-INACTIVATION CENTEROF A FEMALE CARRIER AND HER 2 SONS WITH MALFORMATION SYNDROME
Authors: SCHMUCKER B COHEN M SCHUFFENHAUER S GENZEL O BACH I STENGELRUTKOWSKI S MEINDL A
Citation: B. Schmucker et al., BREAKPOINT ANALYSIS, XIST EXPRESSION AND X-INACTIVATION STUDY IN A XQPROXIMAL INTERSTITIAL DUPLICATION INVOLVING THE X-INACTIVATION CENTEROF A FEMALE CARRIER AND HER 2 SONS WITH MALFORMATION SYNDROME, American journal of human genetics, 53(3), 1993, pp. 600-600
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