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La ricerca find articoli where authors phrase all words 'STIBLER H' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Erlandson, A; Bjursell, C; Stibler, H; Kristiansson, B; Wahlstrom, J; Martinsson, T
      Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

      HUMAN GENETICS
    2. Helander, A; Eriksson, G; Stibler, H; Jeppsson, JO
      Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse

      CLINICAL CHEMISTRY
    3. Erlandson, A; Stibler, H; Kristiansson, B; Wahlstrom, J; Martinsson, T
      Denaturing high-performance liquid chromatography is a suitable method forPMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients

      GENETIC TESTING
    4. Bjursell, C; Erlandson, A; Nordling, M; Nilsson, S; Wahlstrom, J; Stibler, H; Kristiansson, B; Martinsson, T
      PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

      HUMAN MUTATION
    5. Van Setten, GB; Edstrom, L; Stibler, H; Rasmussen, S; Schultz, G
      Levels of transforming growth factor alpha (TGF-alpha) in human cerebrospinal fluid

      INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
    6. Stibler, H; Gylje, H; Uller, A
      A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III

      NEUROPEDIATRICS
    7. Bjursell, C; Wahlstrom, J; Berg, K; Stibler, H; Kristiansson, B; Matthijs, G; Martinsson, T
      Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

      EUROPEAN JOURNAL OF HUMAN GENETICS
    8. 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
    9. KRISTIANSSON B; BORULF S; CONRADI N; ERLANSONALBERTSSON C; RYD W; STIBLER H
      INTESTINAL, PANCREATIC AND HEPATIC INVOLVEMENT IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Journal of pediatric gastroenterology and nutrition
    10. KRISTIANSSON B; STIBLER H; CONRADI N; ERIKSSON BO; RYD W
      THE HEART AND PERICARDIAL-EFFUSIONS IN CDGS-I (CARBOHYDRATE-DEFICIENTGLYCOPROTEIN SYNDROME TYPE-I)

      Journal of inherited metabolic disease
    11. STIBLER H; HOLZBACH U; KRISTIANSSON B
      ISOFORMS AND LEVELS OF TRANSFERRIN, ANTITHROMBIN, ALPHA(1)-ANTITRYPSIN AND THYROXINE-BINDING GLOBULIN IN 48 PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Scandinavian journal of clinical & laboratory investigation
    12. BJORKLUND JEM; STIBLER H; KRISTIANSSON B; JOHANSSON SGO; MAGNUSSON CGM
      IMMUNOGLOBULIN LEVELS IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      International archives of allergy and immunology
    13. BJURSELL C; STIBLER H; WAHLSTROM J; KRISTIANSSON B; SKOVBY F; STROMME P; BLENNOW G; MARTINSSON T
      FINE MAPPING OF THE GENE FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I (CDG1) - LINKAGE DISEQUILIBRIUM AND FOUNDER EFFECT IN SCANDINAVIAN FAMILIES

      Genomics
    14. STIBLER H; VONDOBELN U; KRISTIANSSON B; GUTHENBERG C
      CARBOHYDRATE-DEFICIENT TRANSFERRIN IN GALACTOSEMIA

      Acta paediatrica
    15. BJURSELL C; WAHLSTROM J; STIBLER H; KRISTIANSSON B; MATTHIJS G; MARTINSSON T
      PRENATAL DIAGNOSTIC-TOOLS FOR ANALYSIS OF SCANDINAVIAN CDG TYPE-I PATIENTS

      American journal of human genetics
    16. STIBLER H; HOLZBACH U; TENGBORN L; KRISTIANSSON B
      COMPLEX FUNCTIONAL AND STRUCTURAL COAGULATION ABNORMALITIES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Blood coagulation & fibrinolysis
    17. SILVA MTG; DECASTRO J; STIBLER H; SIMON R; YRIGOYEN AC; MATEOS F; FERRER I; MADERO S; VELASCO JM; GUTTIERREZLARRAYA F
      PRENATAL HYPERTROPHIC CARDIOMYOPATHY AND PERICARDIAL-EFFUSION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Journal of inherited metabolic disease
    18. PINEDA M; PAVIA C; VILASECA MA; FERRER I; TEMUDO T; CHABAS A; STIBLER H; JAEKEN J
      NORMAL PUBERTAL DEVELOPMENT IN A FEMALE WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Archives of Disease in Childhood
    19. KRISTIANSSON B; STIBLER H; WIDE L
      GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME

      Acta paediatrica
    20. STIBLER H; STEPHANI U; KUTSCH U
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - A 4TH SUBTYPE

      Neuropediatrics
    21. MARTINSSON T; BJURSELL C; STIBLER H; KRISTIANSSON B; SKOVBY F; JAEKEN J; BLENNOW G; STROMME P; HANEFELD F; WAHLSTROM J
      LINKAGE OF A LOCUS FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1) TO CHROMOSOME 16P, AND LINKAGE DISEQUILIBRIUM TO MICROSATELLITE MARKER D16S406

      Human molecular genetics
    22. STIBLER H; SKOVBY F
      FAILURE TO DIAGNOSE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME PRENATALLY

      Pediatric neurology
    23. STIBLER H; BLENNOW G; KRISTIANSSON B; LINDEHAMMER A; HAGBERG B
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - CLINICAL EXPRESSION INADULTS WITH A NEW METABOLIC DISEASE

      Journal of Neurology, Neurosurgery and Psychiatry
    24. JAEKEN J; CARCHON H; STIBLER H
      THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS

      Glycobiology
    25. HAGBERG BA; BLENNOW G; KRISTIANSSON B; STIBLER H
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PECULIAR GROUP OF NEWDISORDERS

      Pediatric neurology
    26. JAEKEN J; DECOCK P; STIBLER H; VANGEET C; KINT J; RAMAEKERS V; CARCHON H
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II

      Journal of inherited metabolic disease
    27. STIBLER H
      DIAGNOSIS OF ALCOHOL-RELATED NEUROLOGICAL DISEASES BY ANALYSIS OF CARBOHYDRATE-DEFICIENT TRANSFERRIN IN SERUM

      Acta neurologica Scandinavica
    28. ANDREASSON S; STIBLER H; BLENNOW G; EHINGER B
      SERUM TRANSFERRIN IN PATIENTS WITH RETINITIS-PIGMENTOSA

      Investigative ophthalmology & visual science


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 14:58:18