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La ricerca find articoli where soggetti phrase all words 'SYNDROME TYPE 1A' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 12 riferimenti
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    1. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Schachter, H
      Congenital disorders involving defective N-glycosylation of proteins

      CELLULAR AND MOLECULAR LIFE SCIENCES
    3. Westphal, V; Peterson, S; Patterson, M; Tournay, A; Blumenthal, A; Treacy, EP; Freeze, HH
      Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia

      GENETICS IN MEDICINE
    4. Freeze, HH
      Congenital disorders of glycosylation and the pediatric liver

      SEMINARS IN LIVER DISEASE
    5. 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
    6. Westphal, V; Srikrishna, G; Freeze, HH
      Congenital disorders of glycosylation: Have you encountered them?

      GENETICS IN MEDICINE
    7. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    8. Matthijs, G; Schollen, E; Heykants, L; Grunewald, S
      Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)

      MOLECULAR GENETICS AND METABOLISM
    9. Carchon, H; Van Schaftingen, E; Matthijs, G; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    10. Koscielak, J
      Carbohydrate-deficient glycoprotein syndromes

      ACTA BIOCHIMICA POLONICA
    11. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; YOUNG E; WINCHESTER B
      PRENATAL-DIAGNOSIS OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A (CDG1A) BY A COMBINATION OF ENZYMOLOGY AND GENETIC-LINKAGE ANALYSIS AFTER AMNIOCENTESIS OR CHORIONIC VILLUS SAMPLING

      Prenatal diagnosis
    12. LIEHR T; GREHL H; RAUTENSTRAUSS B
      MOLECULAR DIAGNOSIS OF PMP22-ASSOCIATED NEUROPATHIES USING FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) ON ARCHIVAL PERIPHERAL-NERVE TISSUE PREPARATIONS

      Acta Neuropathologica


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/08/20 alle ore 02:34:21