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1دورية أكاديمية
المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G
المصدر: Nature Genetics. 47(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/57n4q5z6Test
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2دورية أكاديمية
المؤلفون: Novarino, Gaia, El-Fishawy, Paul, Kayserili, Hulya, Meguid, Nagwa A, Scott, Eric M, Schroth, Jana, Silhavy, Jennifer L, Kara, Majdi, Khalil, Rehab O, Ben-Omran, Tawfeg, Ercan-Sencicek, A Gulhan, Hashish, Adel F, Sanders, Stephan J, Gupta, Abha R, Hashem, Hebatalla S, Matern, Dietrich, Gabriel, Stacey, Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A, State, Matthew W, Gleeson, Joseph G
المصدر: Science. 338(6105)
مصطلحات موضوعية: Autism, Pediatric, Neurodegenerative, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Epilepsy, Genetics, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Adolescent, Amino Acids, Branched-Chain, Animals, Arginine, Autistic Disorder, Base Sequence, Brain, Child, Child, Preschool, Diet, Female, Homozygote, Humans, Intellectual Disability, Male, Mice, Mice, Knockout, Molecular Sequence Data, Mutation, Pedigree, Phosphorylation, Protein Folding, Protein Structure, Tertiary, RNA, Messenger, Young Adult, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5k0515djTest
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3دورية أكاديمية
المؤلفون: Gleeson, Joseph G., PER, HÜSEYİN, Erson-Omay, Emine Z., Guemez-Gamboa, Alicia, Caglayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Yasuno, Katsuhito, Bilguvar, Kaya, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas-Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben-Zeev, Bruria, Gunel, Murat
العلاقة: e8c070ed-4536-4375-b557-f03858dec5f9; https://avesis.erciyes.edu.tr/publication/details/e8c070ed-4536-4375-b557-f03858dec5f9/oaiTest
الإتاحة: https://doi.org/10.1002/ana.25327Test
https://avesis.erciyes.edu.tr/publication/details/e8c070ed-4536-4375-b557-f03858dec5f9/oaiTest -
4دورية أكاديمية
المؤلفون: Gumus, Hakan, Gleeson, Joseph G., Gunel, Murat, Ben-Zeev, Bruria, Gabriel, Stacey, Einhorn, Yaron, Porat, Yuval, Weissglas-Volkov, Daphna, Shomron, Noam, Pillar, Nir, Heimer, Gali, Bilguvar, Kaya, Yasuno, Katsuhito, Erson-Omay, Emine Z., Akgumus, Gozde Tugce, Kumandas, Sefer, Bayram, Ayse Kacar, Per, Huseyin, Issa, Mahmoud Y., Fang, Rebecca, Lewis, Steven M., Copeland, Brett, Rosti, Rasim Ozgur, Schroth, Jana, Silhavy, Jennifer L., Akizu, Naiara, Belandres, Denice, McEvoy-Venneri, Jennifer, Musaev, Damir, Saleem, Sahar N., Zaki, Maha S., Gregor, Anne, Stanley, Valentina, ÇAĞLAYAN, AHMET OKAY, Guemez-Gamboa, Alicia
العلاقة: e8c070ed-4536-4375-b557-f03858dec5f9; https://avesis.deu.edu.tr/publication/details/e8c070ed-4536-4375-b557-f03858dec5f9/oaiTest
الإتاحة: https://doi.org/10.1002/ana.25327Test
https://avesis.deu.edu.tr/publication/details/e8c070ed-4536-4375-b557-f03858dec5f9/oaiTest -
5دورية أكاديمية
المؤلفون: Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, Mahmoud, Iman Gamal El Din, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
المصدر: Science, 2014 Jan . 343(6170), 506-511.
الوصول الحر: http://www.jstor.org/stable/24742862Test
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6دورية أكاديمية
المؤلفون: Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G
المصدر: Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; ....
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest; info:pmid/26026149; urn:issn:2050-084X
الإتاحة: https://doi.org/10.5167/uzh-12102010.7554/eLife.06602Test
https://www.zora.uzh.ch/id/eprint/121020Test/
https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest -
7دورية أكاديمية
المؤلفون: Roosing, Susanne, Freilinger, Michael, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, O Rosti, Rasim, Schroth, Jana
جغرافية الموضوع: UMW:14638
وصف الملف: text/html
العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-46434/128Test; urn:nbn:at:at-ubmuw:3-46434; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-46434Test; local:99146097305603331; system:AC16227131
الإتاحة: https://doi.org/10.7554/eLife.06602Test
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-46434Test -
8دورية أكاديمية
المؤلفون: SILHAVY, Jennifer L., AKIZU, Naiara, CANTAGREL, Vincent, ISMAIL, Samira, AZAM, Matloob, ZAKI, Maha S., Al-Gazali, Lihadh, SAGIROGLU, Mahmut Samil, ABDEL-SALAM, Ghada M., NAPOLITANO, Gennaro, FIELD, Seth J., WANG, Xin, ROSTI, Rasim Ozgur, DIKOGLU, Esra, BUSCHMAN, Matthew D., ESKO, Jeffrey D., GORDTS, Philip L. S. M., SCHAFFER, Ashleigh E., COPELAND, Brett, GELOT, Antoinette Bernabe, ROSTI, Basak, VAUX, Keith K., SCHROTH, Jana, SCOTT, Eric M., ÖZGÜL, RIZA KÖKSAL, MUELLER, Ulrich, DESGUERRE, Isabelle, CASANOVA, Jean-Laurent, Dursun, ALİ, Gunel, Murat, TEMTAMY, Samia, BASTAKI, Laila, MASRI, Amira, Kayserili, Hulya, GLEESON, Joseph G., DE LONLAY, Pascale, Gabriel, Stacey B., MOJAHEDI, Faezeh, SADEK, Abdelrahim A., EL BADAWY, Amera, ABDEL-HADI, Sawsan, MAHMOUD, Iman G., SELIM, Laila, AGLAN, Mona
العلاقة: 71e72c41-0794-4a7c-a515-3db53391814e; https://avesis.hacettepe.edu.tr/publication/details/71e72c41-0794-4a7c-a515-3db53391814e/oaiTest
الإتاحة: https://doi.org/10.1038/ng.3256Test
https://avesis.hacettepe.edu.tr/publication/details/71e72c41-0794-4a7c-a515-3db53391814e/oaiTest -
9دورية أكاديمية
المؤلفون: Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E., Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S., Hossni, Heba A.A., Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G., Rosti, Rasim Ö., Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F., Kumandaş, Sefer, Minja, Frank J., Erson-Omay, E. Zeynep, Mane, Shrikant M., Lifton, Richard P., Xu, Tian, Keshishian, Haig, Dobyns, William B., Chi, Neil C., Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G., Günel, Murat
المصدر: Neuron ; volume 85, issue 1, page 228 ; ISSN 0896-6273
مصطلحات موضوعية: General Neuroscience
الإتاحة: https://doi.org/10.1016/j.neuron.2014.12.046Test
https://api.elsevier.com/content/article/PII:S0896627314011556?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0896627314011556?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Vonhoff, Fernando, Henegariu, Octavian, Chabu, Chiswili, SCHAFFER, Ashleigh E., Caglayan, Ahmet Okay, Mishra-Gorur, Ketu, GÜMÜŞ, Hakan, Kumandas, Sefer, SCHROTH, Jana, BARANOSKI, Jacob F., DOELEN, Duygu, CAGLAR, Cagri, YASUNO, Katsuhito, Per, Hüseyin, ROSTI, Rasim Oe, SPENCER, Emily G., KAYSERILI, Huelya, RIVIERE, Jean-Baptiste, HOSSNI, Heba A. A., CAGLAR, Caner, GLEESON, Joseph G., GUENEL, Murat, DOBYNS, William B., KESHISHIAN, Haig, XU, Tian, LIFTON, Richard P., MANE, Shrikant M., ERSON-OMAY, E. Zeynep, MINJA, Frank J., BARAN, Burcin, TU, Shu, Han, Wenqi, Nishimura, Sayoko, Akguemues, Goezde Tugce, DILBER, Cengiz, ZAKI, Maha S., CHI, Neil C., SESTAN, Nenad, LOUVI, Angeliki, BILGUEVAR, Kaya
العلاقة: 00729e66-98a1-4911-9209-839e1b59d49d; https://avesis.erciyes.edu.tr/publication/details/00729e66-98a1-4911-9209-839e1b59d49d/oaiTest
الإتاحة: https://doi.org/10.1016/j.neuron.2014.12.014Test
https://avesis.erciyes.edu.tr/publication/details/00729e66-98a1-4911-9209-839e1b59d49d/oaiTest