يعرض 1 - 10 نتائج من 37 نتيجة بحث عن '"Glycostation disorders [IGMD 4]"', وقت الاستعلام: 1.23s تنقيح النتائج
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    المصدر: Clinical Cancer Research; Vol 19
    Clinical Cancer Research, 19, 3787-95
    Clinical Cancer Research, 19, 14, pp. 3787-95

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    المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

    المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
    American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
    American Journal of Human Genetics, 91, 1073-81

    وصف الملف: application/pdf

  3. 3

    المصدر: Annals of Neurology, 72, 550-8
    Annals of neurology 72 (2012): 550–558. doi:10.1002/ana.23632
    info:cnr-pdr/source/autori:R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber/titolo:DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy/doi:10.1002%2Fana.23632/rivista:Annals of neurology/anno:2012/pagina_da:550/pagina_a:558/intervallo_pagine:550–558/volume:72
    Annals of Neurology, 72, 4, pp. 550-8

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    المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatric surgery, CCA - Innovative therapy, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Human Genetics, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Paediatric Metabolic Diseases

    المصدر: Molecular Genetics and Metabolism, 107, 3, pp. 526-33
    Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
    Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015Test
    Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
    Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
    Molecular Genetics and Metabolism, 107, 526-33

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    المساهمون: Vascular Medicine, Other departments, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Human Genetics, Amsterdam institute for Infection and Immunity, Experimental Vascular Medicine, Amsterdam Public Health, Epidemiology and Data Science, Cardiovascular Centre (CVC), Lifestyle Medicine (LM), Vascular Ageing Programme (VAP), Center for Liver, Digestive and Metabolic Diseases (CLDM)

    المصدر: Cell metabolism, 14(6), 811-818. Cell Press
    Cell metabolism, 14(6), 811-818. CELL PRESS
    Cell Metabolism, 14, 6, pp. 811-8
    CELL METABOLISM, 14(6), 811-818
    Cell Metabolism, 14, 811-8

    وصف الملف: application/pdf

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    المصدر: American Journal of Human Genetics, 88, 5, pp. 628-34
    American Journal of Human Genetics, 88, 628-34

    وصف الملف: application/pdf

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    المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Pediatrics, Clinical Genetics

    المصدر: Annals of neurology, 68(6), 876-887. John Wiley and Sons Inc.
    Annals of Neurology, 68, 876-87
    Annals of Neurology, 68(6), 876-887. John Wiley & Sons Inc.
    Annals of Neurology, 68, 6, pp. 876-87

    وصف الملف: application/pdf

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