المؤلفون: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661Test

المؤلفون: Meryem BADEM, Gamze SARIKAYA UZAN, Semra HIZ KURUL

المصدر: Forbes Tıp Dergisi, Vol 4, Iss 1, Pp 21-27 (2023)

مصطلحات موضوعية: rolandic epilepsy, self-limited epilepsy with centrotemporal spikes, electroencephalography, centrotemporal spike wave discharge, anti-seizure medication, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=forbes&un=FJM-82474Test; https://doaj.org/toc/2757-5241Test

الوصول الحر: https://doaj.org/article/49471c718af7446ca2efd6393ce3fc51Test

المؤلفون: Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Goltz syndrome, Focal dermal hypoplasia, Protein-serine O-palmitoleoyltransferase porcupine, Fibroblast proteomics, Lamin a/c, Connective tissue disorder, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/82ae0241ff1e44fc9314229249815e34Test

المؤلفون: Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath

المصدر: iScience, Vol 24, Iss 1, Pp 101948- (2021)

مصطلحات موضوعية: Biological Sciences, Neuroscience, Molecular Neuroscience, Clinical Neuroscience, Systems Biology, Protemics, Science

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004220311457Test; https://doaj.org/toc/2589-0042Test

الوصول الحر: https://doaj.org/article/2e92aa318b974cfabac7dd6e6609004bTest

المؤلفون: Yasemin Topçu, Erhan Bayram, Pakize Karaoglu, Uluç Yis, Semra Hiz Kurul

المصدر: Annals of Indian Academy of Neurology, Vol 17, Iss 4, Pp 437-440 (2014)

مصطلحات موضوعية: Carnitine palmitoyltransferase II deficiency, recurrent rhabdomyolysis, acylcarnitine profile, very long-chain acyl-CoA dehydrogenase deficiency, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=4;spage=437;epage=440;aulast=TopTestçu; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test

الوصول الحر: https://doaj.org/article/d289a6f132c1470fa2dca2f7bbc3384aTest

المؤلفون: Yasemin Topcu, Erhan Bayram, Pakize Karaoglu, Uluc Yis, Semra Hiz Kurul

المصدر: Annals of Indian Academy of Neurology, Vol 16, Iss 4, Pp 716-719 (2013)

مصطلحات موضوعية: Agenesis of corpus callosum, Shapiro′s syndrome, vomiting, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=716;epage=719;aulast=TopcuTest; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test

الوصول الحر: https://doaj.org/article/16c5916f54304100bf72ab29fd43e221Test

المؤلفون: Erhan Bayram, Yasemin Topcu, Gulcin Akinci, Semra Hiz, Handan Cakmakci

المصدر: Annals of Saudi Medicine, Vol 33, Iss 1, Pp 73-75 (2013)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0256-4947Test; https://doaj.org/toc/0975-4466Test

الوصول الحر: https://doaj.org/article/f8081508666f4983935612baf9ef1daaTest

المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da'as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

المساهمون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da'as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

العلاقة: EXC 2067: Multiscale Bioimaging; https://resolver.sub.uni-goettingen.de/purl?gro-2/142388Test; https://mbexc.uni-goettingen.de/literature/publications/922Test

الإتاحة: https://doi.org/10.1038/s41467-024-46354-0Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/142388Test
https://mbexc.uni-goettingen.de/literature/publications/922Test

المؤلفون: Gamze Sarıkaya Uzan, Çağatay Günay, Semra Hız Kurul, Uluç Yiş

المصدر: Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 578-580 (2023)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=4;spage=578;epage=580;aulast=UzanTest; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test; https://doaj.org/article/20d405ce733d4b7a8b887e65c662c68bTest

الإتاحة: https://doi.org/10.4103/aian.aian_39_23Test
https://doaj.org/article/20d405ce733d4b7a8b887e65c662c68bTest

المؤلفون: Ece Sönmezler, Cristiana Stuani, Semra Hız Kurul, Serdal Güngör, Emanuele Buratti, Yavuz Oktay

العلاقة: https://doi.org/10.1155/2024/7760556Test

الإتاحة: https://doi.org/10.1155/2024/7760556Test