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2دورية أكاديمية
المؤلفون: Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
الإتاحة: https://doi.org/10.1093/braincomms/fcab036Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/111188Test -
3دورية أكاديمية
المؤلفون: Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut
المساهمون: Deutsche Forschungsgemeinschaft, Projekt DEAL
المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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4دورية أكاديمية
المؤلفون: Lazarov, Elinor, Hillebrand, Merle, Schröder, Simone, Ternka, Katharina, Hofhuis, Julia, Ohlenbusch, Andreas, Barrantes-Freer, Alonso, Pardo, Luis A., Fruergaard, Marlene U., Nissen, Poul, Brockmann, Knut, Gärtner, Jutta, Rosewich, Hendrik
المصدر: Lazarov , E , Hillebrand , M , Schröder , S , Ternka , K , Hofhuis , J , Ohlenbusch , A , Barrantes-Freer , A , Pardo , L A , Fruergaard , M U , Nissen , P , Brockmann , K , Gärtner , J & Rosewich , H 2020 , ' Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity ' , Neurobiology of Disease , vol. 143 , 105012 . https://doi.org/10.1016/j.nbd.2020.105012Test
مصطلحات موضوعية: AHC, Alternating hemiplegia of childhood, ATP1A3, Movement disorder, Na/K-ATPase alpha 3 subunit, P-type ATPase, Parkinsonism, Rapid-onset dystonia-parkinsonism, RDP, Na+/K+-ATPase alpha 3 subunit, K+-ATPASE, CRYSTAL-STRUCTURE, NA,K-ATPASE, INTRACELLULAR NA+, CELL-DEATH, NA+,K+-ATPASE ACTIVITY, DE-NOVO MUTATIONS, SODIUM-PUMP, AFFINITY, ALPHA-3 ISOFORM
الإتاحة: https://doi.org/10.1016/j.nbd.2020.105012Test
https://pure.au.dk/portal/en/publications/37a8ec88-558e-43ec-a088-9224e4cac370Test
http://www.scopus.com/inward/record.url?scp=85087942220&partnerID=8YFLogxKTest -
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6دورية أكاديمية
المؤلفون: Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
مصطلحات موضوعية: ddc:572
العلاقة: info:eu-repo/semantics/altIdentifier/issn/2192-8304; info:eu-repo/semantics/altIdentifier/issn/2192-8312; info:eu-repo/semantics/altIdentifier/pmid/31497481; https://nbn-resolving.org/urn:nbn:de:0070-pub-29375860Test; https://pub.uni-bielefeld.de/record/2937586Test; https://pub.uni-bielefeld.de/download/2937586/2949263Test
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7دورية أكاديمية
المؤلفون: Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
العلاقة: vignette : https://noah.nrw/titlepage/urn/urn:nbn:de:0070-pub-29375860/128Test; eIssn:2192-8312; MEDLINE:31497481; urn:nbn:de:0070-pub-29375860; https://nbn-resolving.org/urn:nbn:de:0070-pub-29375860Test; system:bielefeld_pub_2937586
الإتاحة: https://doi.org/10.1002/jmd2.12074Test
https://nbn-resolving.org/urn:nbn:de:0070-pub-29375860Test -
8دورية أكاديمية
المؤلفون: Pauli, Silke, Altmüller, Janine, Schröder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nürnberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd, Brockmann, Knut
مصطلحات موضوعية: Neurogenetics
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/56/4/261Test; http://dx.doi.org/10.1136/jmedgenet-2018-105470Test
الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105470Test
http://jmg.bmj.com/cgi/content/short/56/4/261Test -
9دورية أكاديمية
المؤلفون: Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta
المصدر: European Journal of Human Genetics ; volume 23, issue 8, page 1111-1111 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/ejhg.2014.250Test
http://www.nature.com/articles/ejhg2014250.pdfTest
http://www.nature.com/articles/ejhg2014250Test -
10دورية أكاديمية
المؤلفون: Rosewich, Hendrik, Thiele, Holger, Ohlenbusch, Andreas, Maschke, Ulrike, Frommolt, Peter, Nürnberg, Peter, Brockmann, Knut, Gärtner, Jutta
المصدر: Molecular and Cellular Pediatrics ; volume 1, issue Suppl 1, page A15 ; ISSN 2194-7791