Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'CONGENITAL DISORDER' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 21 riferimenti
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    1. Zdebska, E; Musielak, M; Jaeken, J; Koscielak, J
      Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated

      PROTEOMICS
    2. Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N
      The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

      JOURNAL OF HUMAN GENETICS
    3. Ferens-Sieczkowska, M; Olczak, M
      Carbohydrate structures of haptoglobin in sera of healthy people and a patient with congenital disorder of glycosylation

      ZEITSCHRIFT FUR NATURFORSCHUNG C-A JOURNAL OF BIOSCIENCES
    4. Meissner, T; Rabl, W; Mohnike, K; Scholl, S; Santer, R; Mayatepek, E
      Hyperinsulinism in syndromal disorders

      ACTA PAEDIATRICA
    5. Sergi, C; Poeschl, J; Graf, M; Linderkamp, O
      Restrictive dermopathy: Case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes

      AMERICAN JOURNAL OF PERINATOLOGY
    6. Gerardy-Schahn, R; Oelmann, S; Bakker, H
      Nucleotide sugar transporters: Biological and functional aspects

      BIOCHIMIE
    7. Freeze, HH; Westphal, V
      Balancing N-linked glycosylation to avoid disease

      BIOCHIMIE
    8. Tierney, E; Nwokoro, NA; Porter, FD; Freund, LS; Ghuman, JK; Kelley, RI
      Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Van Dijk, W; Koeleman, C; Hof, BV; Poland, D; Jakobs, C; Jaeken, J
      Increased alpha 3-fucosylation of alpha 1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)

      FEBS LETTERS
    10. 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
    11. Westphal, V; Schottstadt, C; Marquardt, T; Freeze, HH
      Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

      MOLECULAR GENETICS AND METABOLISM
    12. Chou, YH; Tiu, CM; Hsu, CC; Chiou, HJ; Hsieh, SL; Teng, MMH; Yu, C
      Hereditary haemorrhagic teleangiectasia: hepatic lesions demonstrated withcolour Doppler and power Doppler sonography

      EUROPEAN JOURNAL OF RADIOLOGY
    13. Lapointe, JM; Lachance, S; Steffen, DJ
      Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle

      VETERINARY PATHOLOGY
    14. Hempe, JM; Craver, RD
      Separation of hemoglobin variants with similar charge by capillary isoelectric focusing: Value of isoelectric point for identification of common and uncommon hemoglobin variants

      ELECTROPHORESIS
    15. Norgaard-Pedersen, B; Simonsen, H
      Biological specimen banks in neonatal screening

      ACTA PAEDIATRICA
    16. Laikre, L
      Hereditary defects and conservation genetic management of captive populations

      ZOO BIOLOGY
    17. KANAJI T; OKAMURA T; KUROIWA M; MURAKAWA M; KAMURA T; NIHO Y
      A SEQUENCE-ANALYSIS OF VON-WILLEBRAND-FACTOR MESSENGER-RNA, GENE, ANDPSEUDOGENE IN 2 PATIENTS WITH VON-WILLEBRAND DISEASE TYPE 2B, AND AN INVESTIGATION OF GENE CONVERSION IN ITS GENE

      International journal of hematology
    18. YAMADA M; FUKUDA Y; KOYAMA Y; NAKANO I; URANO F; ISOBE K; TAKAMATSU J; IMOTO M; HAYAKAWA T
      A LONG-TERM FOLLOW-UP-STUDY OF INTERFERON TREATMENT FOR CHRONIC HEPATITIS-C IN JAPANESE PATIENTS WITH CONGENITAL BLEEDING DISORDERS

      European journal of haematology
    19. ROTH GJ
      MOLECULAR DEFECTS IN THE BERNARD-SOULIER SYNDROME - ASSESSMENT OF RECEPTOR GENES, TRANSCRIPTS AND PROTEINS

      Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    20. TOHMA M
      DETERMINATION OF FETAL BILE-ACIDS AND REL ATED STEROIDAL COMPOUNDS AND THEIR PROFILE IN NEONATAL BIOLOGICAL-FLUIDS

      Yakugaku zasshi
    21. CHEN H; BLACKBURN WR; WERTELECKI W
      FETAL AKINESIA AND MULTIPLE PERINATAL FRACTURES

      American journal of medical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/21 alle ore 04:12:25