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1دورية أكاديميةDigenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
المؤلفون: Blickhäuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stéphanie, Nassogne, Marie Cécile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger
المصدر: Brain ; ISSN 0006-8950 1460-2156
مصطلحات موضوعية: Neurology (clinical)
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2دورية أكاديميةDigenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
المؤلفون: Blickhaeuser, Beryll, Stenton, Sarah L., Neuhofer, Christiane M., Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A., McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stephanie, Nassogne, Marie Cecile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger
المصدر: Brain
مصطلحات موضوعية: Munich Cluster for Systems Neurology (SyNergy), ddc:610
وصف الملف: application/pdf
العلاقة: Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas und Prokisch, Holger (2024): Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. In: Brain [PDF, 555kB]; https://epub.ub.uni-muenchen.de/117365/1/awae057.pdfTest; http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-117365-2Test; https://epub.ub.uni-muenchen.de/117365Test/
الإتاحة: https://doi.org/10.1093/brain/awae057Test
https://epub.ub.uni-muenchen.de/117365/1/awae057.pdfTest
https://epub.ub.uni-muenchen.de/117365Test/
http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-117365-2Test -
3دورية أكاديمية
المؤلفون: Schwartz, Oliver, Vill, Katharina, Pfaffenlehner, Michelle, Behrens, Max, Weiß, Claudia, Johannsen, Jessika, Friese, Johannes, Hahn, Andreas, Ziegler, Andreas, Illsinger, Sabine, Smitka, Martin, von Moers, Arpad, Kölbel, Heike, Schreiber, Gudrun, Kaiser, Nadja, Wilichowski, Ekkehard, Flotats-Bastardas, Marina, Husain, Ralf A., Baumann, Matthias, Köhler, Cornelia, Trollmann, Regina, Schwerin-Nagel, Annette, Eisenkölbl, Astrid, Schimmel, Mareike, Fleger, Martin, Kauffmann, Birgit, Wiegand, Gert, Baumgartner, Manuela, Rauscher, Christian, Cirak, Sebahattin, Gläser, Dieter, Bernert, Günther, Hagenacker, Tim, Goldbach, Susanne, Probst-Schendzielorz, Kristina, Lochmüller, Hanns, Müller-Felber, Wolfgang, Schara-Schmidt, Ulrike, Walter, Maggie C., Kirschner, Janbernd, Pechmann, Astrid, Baum, Petra, Metelmann, Moritz, Zeiner, Fiona, Löscher, Wolfgang, Pilshofer, Veronika, Mörtlbauer, Kathrin, Pernegger, Elke, Elmecker, Anna, Neimair, Tanja
المصدر: JAMA Pediatrics ; ISSN 2168-6203
الإتاحة: https://doi.org/10.1001/jamapediatrics.2024.0492Test
https://jamanetwork.com/journals/jamapediatrics/articlepdf/2817302/jamapediatrics_schwartz_2024_oi_240012_1711988914.74934.pdfTest -
4دورية أكاديمية
المؤلفون: Muona, Mikko, Berkovic, Samuel F., Dibbens, Leanne M., Oliver, Karen L., Maljevic, Snezana, Bayly, Marta A., Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E., Hildebrand, Michael S., Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E., Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D., Ozkara, Cigdem, Andrade, Danielle M., Engelsen, Bernt A., Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, Joao, Privitera, Michael, Espay, Alberto J., Kauffmann, Birgit, Duchowny, Michael, Moller, Rikke S., Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E., Daly, Mark J., Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
المساهمون: Çocuk Sağlığı ve Hastalıkları
مصطلحات موضوعية: Genetics & Heredity
وصف الملف: text/plain
العلاقة: Nature Genetics; https://doi.org/10.1038/ng.3144Test; http://hdl.handle.net/11655/14244Test; 47; 39; +
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5دورية أكاديمية
المؤلفون: Filla, Alessandro, Muona, Mikko, Berkovic, Samuel F., Dibbens, Leanne M., Oliver, Karen L., Maljevic, Snezana, Bayly, Marta A., Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E., Hildebrand, Michael S., Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E., Criscuolo, Chiara, BAYKAL, Betül, Said, Edith, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Riguzzi, Patrizia, King, Mary D., Ozkara, Cigdem, Andrade, Danielle M., Engelsen, Bernt A., Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, Joao, Privitera, Michael, Espay, Alberto J., Kauffmann, Birgit, Duchowny, Michael, Moller, Rikke S., Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E., Daly, Mark J., Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina, TOPÇU, MERAL
العلاقة: bbc4f513-0193-40c9-b707-6f7dd1e274ec; https://avesis.hacettepe.edu.tr/publication/details/bbc4f513-0193-40c9-b707-6f7dd1e274ec/oaiTest
الإتاحة: https://doi.org/10.1038/ng.3144Test
https://avesis.hacettepe.edu.tr/publication/details/bbc4f513-0193-40c9-b707-6f7dd1e274ec/oaiTest -
6مؤتمر
المصدر: Neuropediatrics ; Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics ; ISSN 1439-1899
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7مؤتمر
المصدر: Neuropediatrics ; Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics ; ISSN 1439-1899
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8مؤتمر
المؤلفون: Wermuth, Marieke, Rating, Tina, Möller, Kristina, Kauffmann, Birgit
المصدر: Neuropediatrics ; Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics ; ISSN 1439-1899
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9دورية أكاديمية
المؤلفون: Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F., Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S., Toribio, Janet, Mena, Rafael, Prada, Carlos E., Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R. Frank, Baralle, Diana, Mancini, Grazia M. S., Conway, Simon J., Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J.
المساهمون: Medicine, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Correction, Phenotype, NatA complex, NAA15
وصف الملف: application/pdf
العلاقة: Human Molecular Genetics; Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., Kooy, R. F., … Lyon, G. J. (2020). Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human molecular genetics, 29(5), 877–878. https://doi.org/10.1093/hmg/ddz173Test; https://hdl.handle.net/1805/22989Test
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10دورية أكاديمية
المؤلفون: Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F., Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S., Toribio, Janet, Mena, Rafael, Prada, Carlos E., Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R. Frank, Baralle, Diana, Mancini, Grazia M.S., Conway, Simon J., Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J.
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/433941/1/NAA10_NAA15_HMG_2019_missense_mutations_Final_Published_paper.pdfTest; Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F., Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S., Toribio, Janet, Mena, Rafael, Prada, Carlos E., Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R. Frank, Baralle, Diana, Mancini, Grazia M.S., Conway, Simon J., Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen and Lyon, Gholson J. (2019) Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics, 28 (17), 2900-2919. (doi:10.1093/hmg/ddz111 ).
