المؤلفون: Sprute, Rosanne, Ardicli, Didem, Oguz, Kader, Malenica-Mandel, Anna, Daimagüler, Hülya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral, Cirak, Sebahattin

مصطلحات موضوعية: Genetics research, Metabolic disorders, Paediatric neurological disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6j3592c7
https://escholarship.org/content/qt6j3592c7/qt6j3592c7.pdf

المؤلفون: Kaczmarek, Alexander Tobias, Bender, Daniel, Gehling, Titus, Kohl, Joshua Benedict, Daimagüler, Hülya‐Sevcan, Santamaria‐Araujo, José Angel, Liebau, Max Christoph, Koy, Anne, Cirak, Sebahattin, Schwarz, Guenter

المصدر: Kaczmarek, Alexander Tobias; Bender, Daniel; Gehling, Titus; Kohl, Joshua Benedict; Daimagüler, Hülya‐Sevcan; Santamaria‐Araujo, José Angel; Liebau, Max Christoph; Koy, Anne; Cirak, Sebahattin; Schwarz, Guenter (2022). A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. Journal of Inherited Metabolic Disease, 45(2):169-182.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Genetics(clinical), Genetics

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/213745/1/J_of_Inher_Metab_Disea_-_2021_-_Kaczmarek_-_A_defect_in_molybdenum_cofactor_binding_causes_an_attenuated_form_of_sulfite.pdf; info:pmid/34741542; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/213745/
https://doi.org/10.1002/jimd.12454

المؤلفون: Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel, A, Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily, C, Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, Mckee, Shane, Tirupathi, Sandya, Moore, Steven, A, Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias

المساهمون: King‘s College London, Evelina London Children's Hospital, King's College Hospital (KCH), Guy's Hospital London, Universität zu Köln = University of Cologne, Children’s University Hospital of Geneva Switzerland, Queen Elizabeth University Hospital (Glasgow), MRC Centre for Neuromuscular Diseases London, UK, National Hospital for Neurology and Neurosurgery (NHNN), Great Ormond Street Hospital for Children London (GOSH), University College of London London (UCL), University of New South Wales Sydney (UNSW), Westmead Hospital Sydney, University Hospital Erlangen = Uniklinikum Erlangen, Universitätsklinikum Erlangen Erlangen, University of Bonn Medical Centre Bonn, Radboud University Nijmegen, Radboud University Medical Center Nijmegen (RadboudUMC), Rady Children's Hospital, Gillette Children's Specialty Healthcare St Paul, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa Iowa City, Georg-August-University = Georg-August-Universität Göttingen, Ruhr University Bochum = Ruhr-Universität Bochum (RUB), Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Saint-Luc University Hospital Brussels, Belgium, Hospital Universitario 12 de Octubre Madrid, Université Paris Cité (UPCité), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 0001-6322.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/33449170; PUBMED: 33449170; PUBMEDCENTRAL: PMC7882473

الاتاحة: https://hal.science/hal-03156853
https://hal.science/hal-03156853v2/document
https://hal.science/hal-03156853v2/file/2021_Rees_ActaNeuropathologica.pdf
https://doi.org/10.1007/s00401-020-02257-0

المؤلفون: Daimagueler, Huelya-Sevcan, Cirak, Sebahattin, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Baydan, Figen, Diniz, Gulden, TALİM, BERİL, GÜNGÖR, SERDAL, YİŞ, ULUÇ, Oezdemir, Oezkan, Akpulat, Ugur

Relation: 850bba8e-864a-4d23-b968-e3d12499bfc5; https://avesis.deu.edu.tr/publication/details/850bba8e-864a-4d23-b968-e3d12499bfc5/oai

الاتاحة: https://doi.org/10.1002/ajmg.a.62148
https://avesis.deu.edu.tr/publication/details/850bba8e-864a-4d23-b968-e3d12499bfc5/oai

المؤلفون: Bayram, Nurettin, Kaçar Bayram, Ayşe, Daimagüler, Hülya-Sevcan, Dafsari, Hormos Salimi, Bamborschke, Daniel, Uyanik, Gökhan, Erdogan, Murat, Özsaygılı, Cemal, Pangal, Emine, Yuvaci, İsa, Doğanay, Selim, Gümüş, Hakan, Per, Hüseyin, Jungbluth, Heinz, Çırak, Sebahattin

المصدر: European Journal of Ophthalmology ; volume 32, issue 3, page NP92-NP97 ; ISSN 1120-6721 1724-6016

الاتاحة: https://doi.org/10.1177/11206721211021291
https://journals.sagepub.com/doi/pdf/10.1177/11206721211021291
https://journals.sagepub.com/doi/full-xml/10.1177/11206721211021291

المؤلفون: Karakaya, Mert, Cirak, Sebahattin, Heller, Raoul, Thiele, Holger, Nuernberg, Peter, Altmueller, Janine, Topaloglu, Haluk, Haliloglu, Goknur, von Pein, Harald, Imbert-Bouteille, Marion, Cossee, Mireille, Schwaibold, Eva Maria Christina, Westhoff, Jens H., Schaenzer, Anne, Schoner, Katharina, Reimann, Jens, Hahn, Andreas, Koy, Anne, DUMAN, ÖZGÜR, Kawalia, Amit, Chao, Cho-Ming, Ostojic, Slavica, Elcioglu, Nursel, Ehrhardt, Harald, Becker, Kerstin, Daimagueler, Huelya-Sevcan, Wang, Haicui, Kreutzer, Mona, Oezdemir, Oezkan, Motameny, Susanne, Pergande, Matthias

الاتاحة: https://doi.org/10.1038/s41436-019-0680-1
https://avesis.hacettepe.edu.tr/publication/details/69f3b7e9-2020-42dd-b3d4-da50641511d4/oai

المؤلفون: Sprute, Rosanne, Jergas, Hannah, Ölmez, Akgün, Alawbathani, Salem, Karasoy, Hatice, Dafsari, Hormos Salimi, Becker, Kerstin, Daimagüler, Hülya‐Sevcan, Nürnberg, Peter, Muntoni, Francesco, Topaloglu, Haluk, Uyanik, Gökhan, Cirak, Sebahattin

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 2, page 344-354 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.61951
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61951
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.61951

المؤلفون: Bamborschke, Daniel, Daimagüler, Hülya‐Sevcan, Hahn, Andreas, Hussain, Muhammad S., Nürnberg, Peter, Cirak, Sebahattin

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 10, page 2450-2453 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.61762
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.61762
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61762
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.61762

المؤلفون: Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin

المصدر: Genetics in Medicine ; volume 22, issue 8, page 1426-1428 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-020-0839-9
http://www.nature.com/articles/s41436-020-0839-9.pdf
http://www.nature.com/articles/s41436-020-0839-9
https://api.elsevier.com/content/article/PII:S1098360021007048?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007048?httpAccept=text/plain

المؤلفون: Cirak, Sebahattin, Daimagüler, Hülya-Sevcan, Moawia, Abubakar, Koy, Anne, Yis, Uluc

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: Medizinische Genetik ; volume 32, issue 3, page 243-261 ; ISSN 1863-5490 0936-5931

الاتاحة: http://dx.doi.org/10.1515/medgen-2020-2040
https://www.degruyter.com/document/doi/10.1515/medgen-2020-2040/xml
https://www.degruyter.com/document/doi/10.1515/medgen-2020-2040/pdf

المؤلفون: Daimagüler, Hülya Sevcan, Okur, Derya, Danyeli, Ayça Ersen, Wang, Haicui, Wunderlich, Gilbert, Yiş, Uluç, Tekgül, Hasan

مصطلحات موضوعية: [No Keywords]

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Turkish Journal of Pediatrics; https://app.trdizin.gov.tr/makale/TXpVek5EWXdNQT09; https://doi.org/10.24953/turkjped.2019.06.015; https://hdl.handle.net/11454/72495; 61; 931; 936

الاتاحة: https://hdl.handle.net/11454/72495
https://app.trdizin.gov.tr/makale/TXpVek5EWXdNQT09
https://doi.org/10.24953/turkjped.2019.06.015

المؤلفون: Dafsari, Hormos Salimi, Kocaturk, Nur Mehpare, Daimagüler, Hülya Sevcan, Brunn, Anna, Dötsch, Jörg, Weis, Joachim, Deckert, Martina, Cirak, Sebahattin

المصدر: Dafsari , H S , Kocaturk , N M , Daimagüler , H S , Brunn , A , Dötsch , J , Weis , J , Deckert , M & Cirak , S 2019 , ' Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy ' , Acta Neuropathologica Communications , vol. 7 , 211 . https://doi.org/10.1186/s40478-019-0869-1

مصطلحات موضوعية: /dk/atira/pure/subjectarea/asjc/2700/2734, name=Pathology and Forensic Medicine, /dk/atira/pure/subjectarea/asjc/2700/2728, name=Clinical Neurology, /dk/atira/pure/subjectarea/asjc/2800/2804, name=Cellular and Molecular Neuroscience

وصف الملف: application/pdf

Relation: https://discovery.dundee.ac.uk/en/publications/73c11908-5ae6-4f9b-84bf-7b93497b0b43

الاتاحة: https://discovery.dundee.ac.uk/en/publications/73c11908-5ae6-4f9b-84bf-7b93497b0b43
https://doi.org/10.1186/s40478-019-0869-1
https://discovery.dundee.ac.uk/ws/files/57405112/s40478_019_0869_1.pdf
http://www.scopus.com/inward/record.url?scp=85077063422&partnerID=8YFLogxK

المؤلفون: Wang, Haicui, Schänzer, Anne, Kampschulte, Birgit, Daimagüler, Hülya-Sevcan, Logeswaran, Thushiha, Schlierbach, Hannah, Petzinger, Jutta, Ehrhardt, Harald, Hahn, Andreas, Cirak, Sebahattin

المساهمون: Deutsche Forschungsgemeinschaft Emmy Noether Grant

المصدر: Acta Neuropathologica Communications ; volume 6, issue 1 ; ISSN 2051-5960

الاتاحة: http://dx.doi.org/10.1186/s40478-018-0589-y
http://link.springer.com/content/pdf/10.1186/s40478-018-0589-y.pdf
http://link.springer.com/article/10.1186/s40478-018-0589-y/fulltext.html

المؤلفون: Daimagüler, Hülya-Sevcan

مصطلحات موضوعية: ddc:500, ddc:570, ddc:610

وصف الملف: application/pdf

Relation: https://kups.ub.uni-koeln.de/72278/3/Abstract_Daimagueler.pdf; Daimagüler, Hülya-Sevcan (2022). Deciphering the Dystroglycan processing pathway by the identification of disease genes for muscular dystrophy. Thesis Abstract, Universität zu Köln.

الاتاحة: https://kups.ub.uni-koeln.de/72278/
https://kups.ub.uni-koeln.de/72278/3/Abstract_Daimagueler.pdf

المؤلفون: Cirak, Sebahattin, Daimagüler, Hülya-Sevcan, Ardicli, Didem, Nürnberg, Peter, Keren-Kaplan, Tal, Bonifacino, Juan S., Topaloglu, Haluk

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0041-1739691
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1739691

المؤلفون: Cirak, Sebahattin, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Karaca, Ezgi, Sprute, Rosanne, Pergande, Matthias, Lücke, Thomas, Punetha, Jaya, Joset, Pascal, Bhola, Priya T., Kostera-Pruszczyk, Anna, Nürnberg, Peter, Posey, Jennifer E., Rauch, Anita, Kernohan, Kym D., Shukla, Anju, Lupski, James R.

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0041-1739693
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1739693

المؤلفون: Cirak, Sebahattin, Daimagüler, Hülya-Sevcan, Diofano, Federica, Dafsari, Hormos Salimi, Brunn, Anna, Weis, Joachim, Deckert, Martina, Nürnberg, Peter, Just, Steffen

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0041-1739597
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1739597

المؤلفون: Bayram, Nurettin, Kaçar Bayram, Ayşe, Daimagüler, Hülya-Sevcan, Salimi Dafsari, Hormos, Bamborschke, Daniel, Uyanik, Gökhan, Erdogan, Murat, Özsaygılı, Cemal, Pangal, Emine, Yuvaci, İsa, Doğanay, Selim, Gümüş, Hakan, Per, Hüseyin, Jungbluth, Heinz, Çırak, Sebahattin

مصطلحات موضوعية: Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::65ecd1be9318f62fa24bc5bd2439eb61

المؤلفون: Bayram, Nurettin, Kaçar Bayram, Ayşe, Daimagüler, Hülya-Sevcan, Salimi Dafsari, Hormos, Bamborschke, Daniel, Uyanik, Gökhan, Erdogan, Murat, Özsaygılı, Cemal, Pangal, Emine, Yuvaci, İsa, Doğanay, Selim, Gümüş, Hakan, Per, Hüseyin, Jungbluth, Heinz, Çırak, Sebahattin

مصطلحات موضوعية: Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f68d5b61d6b92a2a2aac2f613892a06

المؤلفون: UCL - (SLuc) Centre de référence neuromusculaire, Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias

المصدر: Acta Neuropathologica, Vol. 141, no.3, p. 431-453 (2021)

مصطلحات الفهرس: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/261635