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Results: 1-8 |
Results: 8
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
ANALYSIS OF MUTATIONS IN CHRONIC GRANULOMATOUS DISEASES (CGD) WHICH ALLOW PHAGOCYTES TO PRODUCE SMALL AMOUNTS OF REACTIVE OXYGEN
Authors: ROESLER J MARZAHN J ROESENWOLFF A NOTHEIS G BELOHRADSKY B CURNUTTE JT GAHR M
Citation: J. Roesler et al., ANALYSIS OF MUTATIONS IN CHRONIC GRANULOMATOUS DISEASES (CGD) WHICH ALLOW PHAGOCYTES TO PRODUCE SMALL AMOUNTS OF REACTIVE OXYGEN, Blood, 88(10), 1996, pp. 52-52
DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR
Authors: SCHUFFENHAUER S BARTSCH O STUMM M BUCHHOLZ T PETROPOULOU T KRAFT S BELOHRADSKY B HINKEL GK MEITINGER T WEGNER RD
Citation: S. Schuffenhauer et al., DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR, Human genetics, 96(5), 1995, pp. 562-571
A PRIMARY T-CELL IMMUNODEFICIENCY ASSOCIATED WITH DEFECTIVE TRANSMEMBRANE CALCIUM INFLUX
Authors: LEDEIST F HIVROZ C PARTISETI M THOMAS C BUC HA OLEASTRO M BELOHRADSKY B CHOQUET D FISCHER A
Citation: F. Ledeist et al., A PRIMARY T-CELL IMMUNODEFICIENCY ASSOCIATED WITH DEFECTIVE TRANSMEMBRANE CALCIUM INFLUX, Blood, 85(4), 1995, pp. 1053-1062
DIGEORGE-SYNDROME AND PARTIAL MONOSOMY 10P - CASE-REPORT AND REVIEW
Authors: SCHUFFENHAUER S SEIDEL H OECHSLER H BELOHRADSKY B BERNSAU U MURKEN J MEITINGER T
Citation: S. Schuffenhauer et al., DIGEORGE-SYNDROME AND PARTIAL MONOSOMY 10P - CASE-REPORT AND REVIEW, Annales de genetique, 38(3), 1995, pp. 162-167
DNA METHYLATION ANALYSES OF SINGLE-COPY LOCI IN 2 PATIENTS WITH ICF SYNDROME
Authors: HORTNAGEL K SCHUFFENHAUER S PETROPOULOU T BUCHHOLZ B KRAFT S HINKEL GK BELOHRADSKY B MEITINGER T
Citation: K. Hortnagel et al., DNA METHYLATION ANALYSES OF SINGLE-COPY LOCI IN 2 PATIENTS WITH ICF SYNDROME, American journal of human genetics, 57(4), 1995, pp. 757-757
BILATERAL URETERAL OBSTRUCTION SECONDARY TO GRANULOMATOUS-DISEASE
Authors: RIEDL R LIESE J FABRICIUS PG STROHMAYER L STRASSER TH BELOHRADSKY B
Citation: R. Riedl et al., BILATERAL URETERAL OBSTRUCTION SECONDARY TO GRANULOMATOUS-DISEASE, Der Urologe, 33(1), 1994, pp. 80-84
PYRROLIDINE DITHIOCARBAMATE INHIBITS NF-KAPPA-B MOBILIZATION AND TNF PRODUCTION IN HUMAN MONOCYTES
Authors: ZIEGLERHEITBROCK HWL STERNSDORF T LIESE J BELOHRADSKY B WEBER C WEDEL A SCHRECK R BAUERLE P STROBEL M
Citation: Hwl. Zieglerheitbrock et al., PYRROLIDINE DITHIOCARBAMATE INHIBITS NF-KAPPA-B MOBILIZATION AND TNF PRODUCTION IN HUMAN MONOCYTES, The Journal of immunology, 151(12), 1993, pp. 6986-6993
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