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La ricerca find articoli where soggetti phrase all words 'DEFICIENCY TYPE-I' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 16 riferimenti
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    1. Villoutreix, BO; Dahlback, B; Borgel, D; Gandrille, S; Muller, YA
      Three-dimensional model of the SHBG-like region of anticoagulant protein S: New structure-function insights

      PROTEINS-STRUCTURE FUNCTION AND GENETICS
    2. Knoll, B; Hach-Wunderle, V; Rieger, S; Haring, D; Mannhalter, C
      Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis

      THROMBOSIS RESEARCH
    3. Katsumi, A; Matsushita, T; Yamazaki, T; Sugiura, I; Kojima, T; Saito, H
      Severe factor VII deficiency caused by a novel mutation His(348) to Gln inthe catalytic domain

      THROMBOSIS AND HAEMOSTASIS
    4. Mingers, AM; Philapitsch, A; Zeitler, P; Schuster, V; Schwarz, HP; Kreth, HW
      Human homozygous type I plasminogen deficiency and ligneous conjunctivitis

      APMIS
    5. Tarantino, MD; Curtis, SM; Johnson, GS; Waye, JS; Blajchman, MA
      A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia

      AMERICAN JOURNAL OF HEMATOLOGY
    6. Lopez-Siguero, JP; Garcia-Garcia, E; Peter, M; Sippell, WG
      Aldosterone synthase deficiency type I: Hormonal and genetic analyses of two cases

      HORMONE RESEARCH
    7. Schuster, V; Seidenspinner, S; Muller, C; Rempen, A
      Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus

      PRENATAL DIAGNOSIS
    8. MONE CM; NIGRO V; ROTONDI M; DELBUONO A; MAZZIOTTI G; RIONDINO M; SINISI AM; GHIZZONI L; PHILLIPS JA; BELLASTELLA A; CARELLA C
      AN IMPROVED POLYMERASE-CHAIN-REACTION (PCR) PROTOCOL FOR UNAMBIGUOUS DETECTION OF GROWTH-HORMONE GENE DELETIONS

      Journal of pediatric endocrinology & metabolism
    9. Mingers, AM; Philapitsch, A; Schwarz, HP; Zeitler, P; Kreth, HW
      Polymorphonuclear elastase in patients with homozygous type I plasminogen deficiency and ligneous conjunctivitis

      SEMINARS IN THROMBOSIS AND HEMOSTASIS
    10. VILLOUTREIX BO; DEFRUTOS PG; LOVENKLEV M; LINSE S; FERNLUND P; DAHLBACK B
      SHBG REGION OF THE ANTICOAGULANT COFACTOR PROTEIN-S - SECONDARY STRUCTURE PREDICTION, CIRCULAR-DICHROISM SPECTROSCOPY, AND ANALYSIS OF NATURALLY-OCCURRING MUTATIONS

      Proteins
    11. APPLEBY RD; OLDS RJ
      THE INHERITED BASIS OF VENOUS THROMBOSIS

      Pathology
    12. MUSTAFA S; PABINGER I; MANNHALTER C
      A FREQUENT MUTATION IN THE PROTEIN-S GENE RESULTS IN CRYPTIC SPLICING

      British Journal of Haematology
    13. DALY M; PERRY DJ; BRUCE DB; HARPER PL; TAIT RC; WALKER ID; MAYNE EE; DALY HM; BROWN K; CARRELL RW
      TYPE-I ANTITHROMBIN DEFICIENCY - 5 NOVEL MUTATIONS ASSOCIATED WITH THROMBOSIS

      Blood coagulation & fibrinolysis
    14. MUSTAFA S; PABINGER I; MANNHALTER C
      2 NEW FREQUENT DIMORPHISMS IN THE PROTEIN-S (PROS1) GENE

      Thrombosis and haemostasis
    15. ANDERSEN BD; LIND B; PHILIPS M; HANSEN AB; INGERSLEV J; THORSEN S
      2 MUTATIONS IN EXON-XII OF THE PROTEIN S-ALPHA GENE IN 4 THROMBOPHILIC FAMILIES RESULTING IN PREMATURE STOP CODONS AND DEPRESSED LEVELS OF MUTATED MESSENGER-RNA

      Thrombosis and haemostasis
    16. NAKAGAWA Y; KUBOTA A; NASUDA K; TOYA K; FUKUOKA T; SAEGUSA H; IGARASHI Y
      DETECTION OF AN ABERRANT FRAGMENT IN GROWTH-HORMONE GENE-CLUSTER IN AGIRL WITH CONGENITAL GENERALIZED LIPODYSTROPHY

      Hormone and Metabolic Research


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 14:52:05