يعرض 1 - 20 نتائج من 100 نتيجة بحث عن '"Smith, Desirée E C"', وقت الاستعلام: 0.65s تنقيح النتائج
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    Academic Journal
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    Academic Journal

    المصدر: Liepina , L , Smith , D E C , Huidekoper , H , Zeidler , S , Wamelink , M , de Wit , M-C , Wilke , M , Ruijter , G , Bierau , J R & Blom , H J 2024 , ' 5,10-methenyltetrahydrofolate synthetase deficiency : An extreme rare defect of folate metabolism in two Dutch siblings ' , JIMD Reports , vol. 65 , no. 2 , pp. 49-55 . https://doi.org/10.1002/jmd2.12409

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    Academic Journal

    المصدر: van de Kamp , J M , Bökenkamp , A , Smith , D E C , Wamelink , M M C , Jansen , E E W , Struys , E A , Waisfisz , Q , Verkleij , M , Hartmann , M F , Wang , R , Wudy , S A , Paganini , C , Rossi , A & Finken , M J J 2023 , ' Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia ' , Clinical Genetics , vol. 103 , no. 1 , pp. ....

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    Academic Journal
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    Academic Journal

    المؤلفون: Bögershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng‐Jia, Yigit, Gökhan, Hüning, Irina, Polo, Anna M., Vona, Barbara, Huang, Kevin, Schmidt, Julia, Altmüller, Janine, Luppe, Johannes, Platzer, Konrad, Dörgeloh, Beate B., Busch, Andreas, Biskup, Saskia, Mendes, Marisa I., Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bültmann, Eva, Nürnberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K., Hillen, Hauke S., Kratz, Christian P., Wollnik, Bernd, 1 Institute of Human Genetics University Medical Center Göttingen Göttingen Germany, 2 Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany, 3 Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA, 4 Institut für Humangenetik Universitätsklinikum Schleswig‐Holstein Lübeck Germany, 5 MVZ Labor Krone Filialpraxis für Humangenetik Bielefeld Germany, 7 Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, 10 Department of Pediatric Hematology and Oncology Hannover Medical School Hannover Germany, Busche, Andreas, 11 Institut für Humangenetik Westfälische Wilhelms‐Universität Münster Münster Germany, 12 CeGaT GmbH Center for Genomics and Transcriptomics Tübingen Germany, 13 Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience Amsterdam UMC Amsterdam Netherlands, 14 Institute of Diagnostic and Interventional Neuroradiology Hannover Medical School Hannover Germany, 16 Institute of Human Genetics Otto‐von‐Guericke University Magdeburg Magdeburg Germany, 17 Research Group Structure and Function of Molecular Machines Max Planck Institute for Multidisciplinary Sciences Göttingen Germany

    المساهمون: Bögershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng‐Jia, Yigit, Gökhan, Hüning, Irina, Polo, Anna M., Vona, Barbara, Huang, Kevin, Schmidt, Julia, Altmüller, Janine, Luppe, Johannes, Platzer, Konrad, Dörgeloh, Beate B., Busch, Andreas, Biskup, Saskia, Mendes, Marisa I., Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bültmann, Eva, Nürnberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K., Hillen, Hauke S., Kratz, Christian P., Wollnik, Bernd, 1 Institute of Human Genetics University Medical Center Göttingen Göttingen Germany, 2 Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany, 3 Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA, 4 Institut für Humangenetik Universitätsklinikum Schleswig‐Holstein Lübeck Germany, 5 MVZ Labor Krone Filialpraxis für Humangenetik Bielefeld Germany, 7 Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, 10 Department of Pediatric Hematology and Oncology Hannover Medical School Hannover Germany, Busche, Andreas, 11 Institut für Humangenetik Westfälische Wilhelms‐Universität Münster Münster Germany, 12 CeGaT GmbH Center for Genomics and Transcriptomics Tübingen Germany, 13 Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience Amsterdam UMC Amsterdam Netherlands, 14 Institute of Diagnostic and Interventional Neuroradiology Hannover Medical School Hannover Germany, 16 Institute of Human Genetics Otto‐von‐Guericke University Magdeburg Magdeburg Germany, 17 Research Group Structure and Function of Molecular Machines Max Planck Institute for Multidisciplinary Sciences Göttingen Germany

    Relation: EXC 2067: Multiscale Bioimaging; SFB 1190: Transportmaschinen und Kontaktstellen zellulärer Kompartimente; FOR 2848: Architektur und Heterogenität der inneren mitochondrialen Membran auf der Nanoskala; FOR 2848 %7C St01: Structure and distribution of ribosomes at the inner mitochondrial membrane; https://resolver.sub.uni-goettingen.de/purl?gro-2/117321; https://mbexc.uni-goettingen.de/literature/publications/517; https://sfb1190.med.uni-goettingen.de/production/literature/publications/180; https://for2848.gwdguser.de/literature/publications/34

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    Academic Journal

    المصدر: Wang , L , Li , Z , Sievert , D , Smith , D E C , Mendes , M I , Chen , D Y , Stanley , V , Ghosh , S , Wang , Y , Kara , M , Aslanger , A D , Rosti , R O , Houlden , H , Salomons , G S & Gleeson , J G 2021 , ' Author Correction : Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly (Nature Communications, (2020), 11, 1, (4038), 10.1038/s41467-020-17454-4) ' , Nature Communications , ....

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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

    المصدر: Lenz , D , Smith , D E C , Crushell , E , Husain , R A , Salomons , G S , Alhaddad , B , Bernstein , J A , Bianzano , A , Biskup , S , Brennenstuhl , H , Caldari , D , Dikow , N , Haack , T B , Hanson-Kahn , A , Harting , I , Horn , D , Hughes , J , Huijberts , M , Isidor , B , Kathemann , S , Kopajtich , R , Kotzaeridou , U , Kuery , S , Lainka ....

    وصف الملف: application/pdf

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    Academic Journal

    المساهمون: Brain and Behavior Research Foundation, California Institute for Regenerative Medicine, U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke, Howard Hughes Medical Institute, U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

    المصدر: Nature Communications ; volume 11, issue 1 ; ISSN 2041-1723

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    Academic Journal
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    Academic Journal

    المصدر: Theil , A F , Botta , E , Raams , A , Smith , D E C , Mendes , M I , Caligiuri , G , Giachetti , S , Bione , S , Carriero , R , Liberi , G , Zardoni , L , Swagemakers , S M A , Salomons , G S , Sarasin , A , Lehmann , A , van der Spek , P J , Ogi , T , Hoeijmakers , J H J , Vermeulen , W & Orioli , D 2019 , ' Bi-allelic TARS Mutations Are Associated ....

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    Academic Journal
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    Academic Journal
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    Academic Journal

    مصطلحات موضوعية: ddc:no

    Relation: Boegershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng-Jia orcid:0000-0002-7559-6529 , Yigit, Goekhan, Huening, Irina, Polo, Anna M., Vona, Barbara orcid:0000-0002-6719-3447 , Huang, Kevin orcid:0000-0002-2512-7812 , Schmidt, Julia, Altmueller, Janine, Luppe, Johannes, Platzer, Konrad, Doergeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa, I, Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bueltmann, Eva, Nuernberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K. orcid:0000-0002-0429-1904 , Hillen, Hauke S., Kratz, Christian P. and Wollnik, Bernd orcid:0000-0003-2589-0364 (2022). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Hum. Mutat., 43 (10). S. 1454 - 1472. HOBOKEN: WILEY. ISSN 1098-1004

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    المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience

    المصدر: Nature communications, 12(1):1192. Nature Publishing Group
    Wang, L, Li, Z, Sievert, D, Smith, D E C, Mendes, M I, Chen, D Y, Stanley, V, Ghosh, S, Wang, Y, Kara, M, Aslanger, A D, Rosti, R O, Houlden, H, Salomons, G S & Gleeson, J G 2021, ' Author Correction : Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly (Nature Communications, (2020), 11, 1, (4038), 10.1038/s41467-020-17454-4) ', Nature Communications, vol. 12, no. 1, 1192 . https://doi.org/10.1038/s41467-021-21448-1