يعرض 1 - 20 نتائج من 379 نتيجة بحث عن '"Ashikov, A."', وقت الاستعلام: 0.65s تنقيح النتائج
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    Academic Journal
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    Academic Journal
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    Academic Journal

    المصدر: Abu Bakar , N , Ashikov , A , Brum , J M , Smeets , R , Kersten , M , Huijben , K , Keng , W T , Speck-Martins , C E , Carvalho , D R , Pinto Oliveira Rizzo , I M , Mello , W D , Heiner-Fokkema , R , Gorman , K , Grunewald , S , Michelakakis , H , Moraitou , M , Martinelli , D , Scherpenzeel , M , Janssen , M , Boer , L , Heuvel , L P , Thiel , C & Lefeber ....

    وصف الملف: application/pdf

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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal

    المصدر: Wilson , M P , Garanto , A , Pinto e Vairo , F , Ng , B G , Ranatunga , W K , Ventouratou , M , Baerenfaenger , M , Huijben , K , Thiel , C , Ashikov , A , Keldermans , L , Souche , E , Vuillaumier-Barrot , S , Dupré , T , Michelakakis , H , Fiumara , A , Pitt , J , White , S M , Lim , S C , Gallacher , L , Peters , H , Rymen , D , Witters , P , ....

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    Academic Journal

    المساهمون: Medicum, Department of Pathology, University of Helsinki, HUS Helsinki and Uusimaa Hospital District

    وصف الملف: application/pdf

    Relation: Cannata Serio , M , Graham , L A , Ashikov , A , Larsen , L E , Raymond , K , Timal , S , Le Meur , G , Ryan , M , Czarnowska , E , Jansen , J C , He , M , Ficicioglu , C , Pichurin , P , Hasadsri , L , Minassian , B , Rugierri , A , Kalimo , H , Rios-Ocampo , W A , Gilissen , C , Rodenburg , R , Jonker , J W , Holleboom , A G , Morava , E , Veltman , J A , Socha , P , Stevens , T H , Simons , M & Lefeber , D J 2020 , ' Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease ' , Hepatology , vol. 72 , no. 6 , pp. 1968-1986 . https://doi.org/10.1002/hep.31218; http://hdl.handle.net/10138/326475; 8579ad66-5d5d-4836-9278-a65069d8e86e; 000601216300007

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    Academic Journal
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    Academic Journal

    المصدر: Cannata Serio , M , Graham , L A , Ashikov , A , Larsen , L E , Raymond , K , Timal , S , Le Meur , G , Ryan , M , Czarnowska , E , Jansen , J C , He , M , Ficicioglu , C , Pichurin , P , Hasadsri , L , Ríos-Ocampo , W A , Gilissen , C , Rodenburg , R , Jonker , J W , Holleboom , A G , Morava , E , Veltman , J A , Socha , P , Stevens , ....

    وصف الملف: application/pdf

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    Electronic Resource
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    Academic Journal

    المصدر: van Tol , W , van Scherpenzeel , M , Alsady , M , Riemersma , M , Hermans , E , Kragt , E , Tasca , G , Kamsteeg , E-J , Pennings , M , van Beusekom , E , Vermeulen , J R , van Bokhoven , H , Voermans , N C , Willemsen , M A , Ashikov , A & Lefeber , D J 2019 , ' Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy ' , Clinical Chemistry , vol. 65 , no. 10 ....

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    المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

    المصدر: Journal of Inherited Metabolic Disease, 45, 769-781
    Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
    Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER

    وصف الملف: application/pdf

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    Academic Journal
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    Academic Journal
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    Academic Journal

    المساهمون: Netherlands Organisation for Health Research and Development, Natural Sciences and Engineering Research Council of Canada, Brain Canada Foundation, Health Canada, Ministry of Health of Malaysia, European Union Framework Programme for Research and Innovation, MZ CR AZV

    المصدر: Human Molecular Genetics ; volume 27, issue 17, page 3029-3045 ; ISSN 0964-6906 1460-2083

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    Academic Journal