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    1. Westphal, V; Kjaergaard, S; Davis, JA; Peterson, SM; Skovby, F; Freeze, HH
      Genetic and metabolic analysis of the first adult with congenital disorderof glycosylation type Ib: Long-term outcome and effects of mannose supplementation

      MOLECULAR GENETICS AND METABOLISM
    2. Santer, R; Kinner, M; Steuerwald, U; Kjaergaard, S; Skovby, F; Simonsen, H; Shaiu, WL; Chen, YT; Schneppenheim, R; Schaub, J
      Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Kjaergaard, S; Schwartz, M; Skovby, F
      Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrumof the R141H/F119L genotype

      ARCHIVES OF DISEASE IN CHILDHOOD
    4. Kjaergaard, S; Rees, SE; Nielsen, JA; Freundlich, M; Thorgaard, P; Andreassen, S
      Modelling of hypoxaemia after gynaecological laparotomy

      ACTA ANAESTHESIOLOGICA SCANDINAVICA
    5. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
      Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

      HUMAN MUTATION
    6. Schollen, E; Kjaergaard, S; Legius, E; Schwartz, M; Matthijs, G
      Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    8. Moser, C; Kjaergaard, S; Pressler, T; Kharazmi, A; Koch, C; Hoiby, N
      The immune response to chronic Pseudomonas aeruginosa lung infection in cystic fibrosis patients is predominantly of the Th2 type

      APMIS
    9. Kjaergaard, S; Skovby, F; Schwartz, M
      Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E-coli

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Andreassen, S; Rees, SE; Kjaergaard, S; Thorgaard, P; Winter, SM; Morgan, CJ; Alstrup, P
      Hypoxemia after coronary bypass surgery modeled by resistance to oxygen diffusion

      CRITICAL CARE MEDICINE
    11. KJAERGAARD S; SKOVBY F; SCHWARTZ M
      ABSENCE OF HOMOZYGOSITY FOR PREDOMINANT MUTATIONS IN PMM2 IN DANISH PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1

      European journal of human genetics
    12. Kjaergaard, S; Graem, N; Larsen, T; Skovby, F
      Recurrent fetal polycystic kidneys associated with glutaric aciduria type II

      APMIS
    13. KJAERGAARD S; KRISTIANSSON B; STIBLER H; FREEZE HH; SCHWARTZ M; MARTINSSON T; SKOVBY F
      FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A

      Acta paediatrica
    14. CHRISTENSEN E; CEZANNE I; KJAERGAARD S; HORLYK H; PEDERSEN VF; VREKEN P; VANKUILENBURG ABP; VANGENNIP AH
      CLINICAL VARIABILITY IN 3 DANISH PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY ALL HOMOZYGOUS FOR THE SAME MUTATION

      Journal of inherited metabolic disease
    15. ALTON G; KJAERGAARD S; ETCHISON JR; SKOVBY F; FREEZE HH
      ORAL INGESTION OF MANNOSE ELEVATES BLOOD MANNOSE LEVELS - A FIRST STEP TOWARD A POTENTIAL THERAPY FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Biochemical and molecular medicine
    16. ANDERSSON K; BAKKE JV; BJORSETH O; BORNEHAG CG; CLAUSEN G; HONGSLO JK; KJELLMAN M; KJAERGAARD S; LEVY F; MOLHAVE L; SKERFVING S; SUNDELL J
      TVOC AND HEALTH IN NONINDUSTRIAL INDOOR ENVIRONMENTS - REPORT FROM A NORDIC SCIENTIFIC CONSENSUS MEETING AT LANGHOLMEN IN STOCKHOLM, 1996

      Indoor air
    17. BRAUER M; LEE KY; SPENGLER JD; SALONEN RO; PENNANEN A; BRAATHEN OA; MIHALIKOVA E; MISKOVIC P; NOZAKI A; TSUZUKI T; SONG RJ; YANG X; ZENG QX; DRAHONOVSKA H; KJAERGAARD S
      NITROGEN-DIOXIDE IN INDOOR ICE SKATING FACILITIES - AN INTERNATIONAL SURVEY

      Journal of the Air & Waste Management Association [1995]
    18. JENSEN K; KJAERGAARD S; MALTE E; BUNEMANN L; THERKELSEN K; KNUDSEN F
      EFFECT OF GRADUATED INTRAVENOUS AND STANDARD RECTAL DOSES OF INDOMETHACIN ON CEREBRAL BLOOD-FLOW IN HEALTHY-VOLUNTEERS

      Journal of neurosurgical anesthesiology
    19. CAIN WS; LEADERER BP; GINSBERG GL; ANDREWS LS; COMETTOMUNIZ JE; GENT JF; BUCK M; BERGLUND LG; MOHSENIN V; MONAHAN E; KJAERGAARD S
      ACUTE EXPOSURE TO LOW-LEVEL METHYL TERTIARY-BUTYL ETHER (MTBE) - HUMAN REACTIONS AND PHARMACOKINETIC RESPONSE

      Inhalation toxicology
    20. RASMUSSEN TR; BRAUER M; KJAERGAARD S
      EFFECTS OF NITROUS-ACID EXPOSURE ON HUMAN MUCOUS-MEMBRANES

      American journal of respiratory and critical care medicine


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 19:41:39