يعرض 1 - 20 نتائج من 46 نتيجة بحث عن '"Haeuptle, M A"', وقت الاستعلام: 0.66s تنقيح النتائج
  1. 1
    Academic Journal

    المساهمون: Kowarik, M., Wetter, M., Haeuptle, M. A., Braun, M., Steffen, M., Kemmler, S., Ravenscroft, N., De Benedetto, G., Zuppiger, M., Sirena, D., Cescutti, P., Wacker, M.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/33730261; info:eu-repo/semantics/altIdentifier/wos/WOS:000629930300001; volume:38; issue:4; firstpage:421; lastpage:435; numberofpages:15; journal:GLYCOCONJUGATE JOURNAL; http://hdl.handle.net/11368/2993436; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102947067; https://link.springer.com/article/10.1007/s10719-021-09985-9

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  3. 3
    Academic Journal

    المصدر: Haeuptle, M A; Welti, M; Troxler, H; Huelsmeier, A J; Imbach, T; Hennet, T (2011). Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor Zaragozic acid. Journal of Biological Chemistry, 286(8):6085-6091.

    وصف الملف: application/pdf

  4. 4
    Academic Journal
  5. 5
    Academic Journal

    المؤلفون: Haeuptle, M A, Hennet, T

    المصدر: Haeuptle, M A; Hennet, T (2009). Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Human Mutation, 30(12):1628-1641.

    وصف الملف: application/pdf

  6. 6
    Academic Journal

    المصدر: Jaeken, J; Vleugels, W; Régal, L; Corchia, C; Goemans, N; Haeuptle, M A; Foulquier, F; Hennet, T; Matthijs, G; Dionisi-Vici, C (2009). RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation. Journal of Inherited Metabolic Disease, 32(S1):335-338.

    وصف الملف: application/pdf

  7. 7
    Academic Journal

    المصدر: Vleugels, W; Haeuptle, M A; Ng, B G; Michalski, J C; Battini, R; Dionisi-Vici, C; Ludman, M D; Jaeken, J; Foulquier, F; Freeze, H H; Matthijs, G; Hennet, T (2009). RFT1 deficiency in three novel CDG patients. Human Mutation, 30(10):1428-1434.

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/25740/7/25740.pdf; info:pmid/19701946; urn:issn:1059-7794

  8. 8
    Academic Journal

    المصدر: Vesela, K; Honzik, T; Hansikova, H; Haeuptle, M A; Semberova, J; Stranak, Z; Hennet, T; Zeman, J (2009). A new case of ALG8 deficiency (CDG Ih). Journal of Inherited Metabolic Disease, 32(S1):259-264.

    مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/25738/1/25738.pdf; info:pmid/19688606; urn:issn:0141-8955

  9. 9
    Academic Journal

    المصدر: Haeuptle, M A; Pujol, F M; Neupert, C; Winchester, B; Kastaniotis, A J; Aebi, M; Hennet, T (2008). Human RFT1 deficiency leads to a disorder of N-linked glycosylation. American Journal of Human Genetics, 82(3):600-606.

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/6343/9/6343_RFT1_manuscript_AJHGV.pdf; info:pmid/18313027; urn:issn:0002-9297

  10. 10
    Academic Journal

    المساهمون: Vleugels, W, Haeuptle M, A., Ng, Bobby, G, Michalski, Jc, Battini, R, Dionisi-Vici, C, Ludman M, D., Jaeken, J, Foulquier, F, Freeze, H H, Matthijs, G, Hennet, T

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000270855400009; firstpage:1428; lastpage:1434; numberofpages:7; journal:HUMAN MUTATION; http://hdl.handle.net/11568/951240; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-73349113996

  11. 11
    Conference
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    Academic Journal
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    Academic Journal
  14. 14
    Dissertation/ Thesis
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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal