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1دورية أكاديمية
المؤلفون: Farach, Laura S., Richard, Melissa A., Lupo, Philip J., Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Bebin, Elizabeth M., Au, Kit Sing, Northrup, Hope, Sahin, M., Krueger, D., Bebin, M., Wu, J.Y., Northrup, H., Warfield, S., Peters, J., Scherrer, B., Goyal, M., Filip-Dhima, R., Dies, K., Bruns, S., Hanson, E., Bing, N., Kent, B., O'Kelley, S., Williams, M.E., Pearson, D., Cutter, G., Roberds, S., Murray, D.S.
المساهمون: National Institutes of Health, U.S. Department of Defense
المصدر: Pediatric Neurology ; volume 113, page 46-50 ; ISSN 0887-8994
مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2020.07.015Test
https://api.elsevier.com/content/article/PII:S088789942030271X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S088789942030271X?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Farach, Laura S., Pearson, Deborah A., Woodhouse, John P., Schraw, Jeremy M., Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Bebin, Elizabeth M., Lupo, Philip J., Au, Kit Sing, Northrup, Hope, Sahin, M., Krueger, D., Bebin, M., Wu, J.Y., Northrup, H., Warfield, S., Peters, J., Scherrer, B., Goyal, M., Filip-Dhima, R., Dies, K., Bruns, S., Hanson, E., Bing, N., Kent, B., O'Kelley, S., Williams, M.E., Pearson, D., Cutter, G., Roberds, S., Murray, D.S.
المساهمون: Autism Center of Excellence Network, Developmental Synaptopathies Consortium, Department of Defense, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institute of Mental Health, National Center for Advancing Translational Sciences
المصدر: Pediatric Neurology ; volume 96, page 58-63 ; ISSN 0887-8994
مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2019.03.003Test
https://api.elsevier.com/content/article/PII:S088789941831292X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S088789941831292X?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Blanchet, P., Bebin, M., Bruet, S., Cooper, G. M., Thompson, M. L., Duban-Bedu, B., Gerard, B., Piton, A., Suckno, S., Deshpande, C., Clowes, V., Vogt, J., Turnpenny, Peter, Williamson, M. P., Alembik, Y., Glasgow, E., McNeill, A.
مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Adult, Animals, CRISPR-Cas Systems, Cell Line, Child, Chromosome Deletion, Chromosomes, Human, Pair 2, Female, Gene Expression Regulation, Gene Knockout Techniques, Humans, Hypothalamus, Intellectual Disability, Male, Mutation, Nerve Tissue Proteins, Obesity, Polymorphism, Single Nucleotide, Transcription Factors, Zebrafish
وصف الملف: application/pdf
العلاقة: http://dx.plos.org/10.1371/journal.pgen.1006957Test; MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. 2017, 13 (8):e1006957 PLoS Genet.; http://hdl.handle.net/11287/620470Test; PLoS genetics
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4دورية أكاديمية
المؤلفون: Kiran V, Gnanendra, Varsha A, Kavi, M, Vijayalaksmi, Govindaraj, Vishnuvarthanan, M, Anisha, N, Vigneshwari, M, Gokul, Nithila, Ezhil E., Bebin, M., Prasath, T. Arun, Chezhiyan, Ponmozhi
المصدر: Materials Today Communications ; volume 33, page 104464 ; ISSN 2352-4928
مصطلحات موضوعية: Materials Chemistry, Mechanics of Materials, General Materials Science
الإتاحة: https://doi.org/10.1016/j.mtcomm.2022.104464Test
https://api.elsevier.com/content/article/PII:S2352492822013058?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352492822013058?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: M, Anisha, Vijayalaksmi, M, Vigneshwari, N, Gokul, M, Govindaraj, Vishnuvarthanan, Nithila, Ezhil E., Bebin, M., Prasath, T.Arun, Kiran V, Gnanendra, Varsha A, Kavi
المصدر: SSRN Electronic Journal ; ISSN 1556-5068
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6مؤتمر
المؤلفون: Anisha, M., Sivasangari, J., Rani, V. Aarthi, Chezhiyan, Ponmozhi, Bebin, M., Elliot, C. Jim, Benisha, M., Firthous, A. Thasneem
المصدر: 2021 Third International Conference on Intelligent Communication Technologies and Virtual Mobile Networks (ICICV)
الإتاحة: https://doi.org/10.1109/icicv50876.2021.9388545Test
http://xplorestaging.ieee.org/ielx7/9388249/9388373/09388545.pdf?arnumber=9388545Test -
7دورية أكاديمية
المؤلفون: Drivas, TG, Li, D, Nair, D, Alaimo, JT, Alders, M, Altmüller, J, Barakat, Stefan, Bebin, M, Bertsch, NL, Blackburn, P, Blesson, A, Bouman, Arjan, Brockmann, K, Brunelle, D, Burmeister, M, Cooper, G, Denecke, T, Dieux-Coeslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, LE, Gunderson, LB, Hasadsri, L, Jain, M, Karimov, C, Keena, BA, Klee, EW, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, JL, Milunsky, JM, Napier, MP, Ortiz-Gonzalez, XR, Pichurin, PN, Pinner, J, Powis, Z, Prasad, C, Radio, FC, Rasmussen, KJ, Renaud, D, Rush, E, Saunders, C, Selcen, D, Seman, AR, Shinde, D N, Smith, E, Smol, S, Snijders Blok, L
المصدر: Drivas , TG , Li , D , Nair , D , Alaimo , JT , Alders , M , Altmüller , J , Barakat , S , Bebin , M , Bertsch , NL , Blackburn , P , Blesson , A , Bouman , A , Brockmann , K , Brunelle , D , Burmeister , M , Cooper , G , Denecke , T , Dieux-Coeslier , A , Dubbs , H , Ferrer , A , Gal , D , Bartik , LE , Gunderson , LB , Hasadsri , L , Jain , M ....
الإتاحة: https://doi.org/10.1038/s41431-020-0654-4Test
https://pure.eur.nl/en/publications/c7cb259c-3120-40eb-bdbb-4fe3c91f54e8Test
http://hdl.handle.net/1765/127696Test -
8دورية أكاديمية
المؤلفون: Legendre, Christophe, Cohen, David, Delmas, Yahsou, Feldkamp, Thorsten, Fouque, Denis, Furman, Richard, Gaber, Osama, Greenbaum, Larry, Goodship, Timothy, Haller, Hermann, Herthelius, Maria, Hourmant, Maryvonne, Licht, Christoph, Moulin, Bruno, Sheerin, Neil, Trivelli, Antonella, Bedrosian, Camille L., Loirat, Chantal, Babu, Sunil, Jungraithmayr, Therese, Lebranchu, Yvon, Riedl, Magdalena, Gaber, A. Osama, Bedrosian, Camille, Muus, Petra, Douglas, Kenneth, Remuzzi, Giuseppe, Kourouklaris, Andreas, Ioannou, Kyriakos, Athanasiou, Ioannis, Demetriou, Kyproula, Panagidou, Alexia, Zavros, Michalis, Rodríguez C, Nestor Y., Blasco, Miquel, Arcal, Carola, Quintana, Luis F., Rodríguez de Cordoba, Santiago, Campistol, Josep M., Bachmann, Nadine, Eisenberger, Tobias, Decker, Christian, Bolz, Hanno J., Bergmann, Carsten, Pesce, Francesco, Cox, Sharon N., Serino, Grazia, De Palma, Giuseppe, Sallustio, Fabio P., Schena, Francesco, Falchi, Mario, Pieri, Myrtani, Stefanou, Charalambos, Zaravinos, Apostolos, Erguler, Kamil, Lapathitis, George, Dweep, Harsh, Sticht, Carsten, Anastasiadou, Natassa, Zouvani, Ioanna, Voskarides, Konstantinos, Gretz, Norbert, Deltas, Constantinos C., Ruiz, Anne, Bonny, Olivier, Sallustio, Fabio, Curci, Claudia, Cox, Sharon, Kemter, Elisabeth, Sklenák, Stefanie, Aigner, Bernhard, Wanke, Ruediger, Kitzler, Thomas M., Moskowitz, Jonathan L., Piret, Sian E., Lhotta, Karl, Tashman, Adam, Velez, Erin, Thakker, Rajesh V., Kotanko, Peter, Leierer, Johannes, Rudnicki, Michael, Perco, Paul, Koppelstaetter, Christian, Mayer, Gert, Sá, Maria J.N., Alves, Susana, Storey, Helen, Flinter, Frances, Willems, Patrick J., Carvalho, Filipa, Oliveira, João, Arsali, Maria, Papazachariou, Louiza, Demosthenous, Panayiota, Lazarou, Akis, Hadjigavriel, Michalis, Stavrou, Christoforos, Yioukkas, Lakis, Deltas, Constantinos, Pierides, Alkis, Kkolou, Maria, Toka, Hakan R., Dibartolo, Salvatore, Lanske, Beate, Brown, Edward M., Pollak, Martin R., Familiari, Alessandra, Zavan, Barbara, Sanna Cherchi, Simone, Fabris, Antonia, Cristofaro, Rosalba, Gambaro, Giovanni, D'Angelo, Angela, Anglani, Franca, Toka, Hakan, Mount, David, Pollak, Martin, Curhan, Gary, Sengöge, Gürkan, Bajari, Tarek, Kupczok, Anna, von Haeseler, Arndt, Schuster, Michael, Pfaller, Walter, Jennings, Paul, Weltermann, Ansgar, Blake, Sophia, Sunder-Plassmann, Gere, Kerti, Andrea, Csohány, Rózsa, Wagner, László, Jávorszky, Eszter, Maka, Erika, Tulassay, Tivadar, Tory, Kálmán, Kingswood, John, Nikolskaya, Natalya, Mbundi, Jana, Kingswood, J., Jozwiak, S., Belousova, E., Frost, M., Kuperman, R., Bebin, M., Korf, B., Flamini, R., Kohrman, M., Sparagana, S., Wu, J., Brechenmacher, T., Stein, K., Bissler, J., Franz, D., Zonnenberg, B., Cheung, W., Wang, J., Lam, D., Budde, K., Ivanitskiy, Lyudvig, Sowershaewa, Evgeniya, Krasnova, Tatyana, Samokhodskaya, Larisa, Safarikova, Marketa, Jana, Reiterova, Jitka, Stekrova, Obeidova, Lena, Kohoutova, Milada, Tesar, Vladimir, Evrengul, Havva, Ertan, Pelin, Serdaroglu, Erkin, Yuksel, Selcuk, Mir, Sevgi, Yang n Ergon, Ezgi, Berdeli, Afig, Zawada, Adam, Rogacev, Kyrill, Rotter, Björn, Winter, Peter, Fliser, Danilo, Heine, Gunnar, Bataille, Stanislas, Moal, Valerie, Berland, Yvon, Daniel, Laurent, Rosado, Consolación, Bueno, Elena, Fraile, Pilar, Lucas, Cristina, Garcóa-Cosmes, Pedro, Tabernero, JoséMatías, González, Rogelio, García-Cosmes, Pedro, Silska-Dittmar, Magdalena, Zaorska, Katarzyna, Malke, Anna, Musielak, Anna, Ostalska-Nowicka, Danuta, Zachwieja, Jacek, K d r, Veysel, Uz, Efkan, Yigit, Ayse, Altuntas, Atila, Yigit, Barbaros, Inal, Salih, Uz, Ebru, Sezer, Mehmet, Yalmaz, Ramazan, Visciano, Bianca, Porto, Caterina, Acampora, Emma, Russo, Roberta, Riccio, Eleonora, Capuano, Ivana, Parenti, Giancarlo, Pisani, Antonio, Conti, Maura, Angioi, Andrea, Floris, Matteo, Melis, Patrizia, Asunis, Anna Maria, Piras, Doloretta, Pani, Antonello, Warnock, David, Guasch, Antonio, Thomas, Christie, Wanner, Christoph, Campbell, Ruth, Vujkovac, Bojan, Okur, Ilyas, Biberoglu, Gürsel, Ezgü, Fatih, Tümer, Leyla, Hasanoglu, Alev, Bicik, Zerrin, Akin, Yasemin, Mumcuoglu, Metin, Ecder, Tevfik, Paliouras, Christos, Mattas, Georgios, Papagiannis, Nikolaos, Ntetskas, Georgios, Lamprianou, Foteini, Karvouniaris, Nikolaos, Alivanis, Polichronis
مصطلحات موضوعية: Abstracts
وصف الملف: text/html
العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/28/suppl_1/i309Test; http://dx.doi.org/10.1093/ndt/gft126Test
الإتاحة: https://doi.org/10.1093/ndt/gft126Test
http://ndt.oxfordjournals.org/cgi/content/short/28/suppl_1/i309Test -
9دورية أكاديمية
المؤلفون: Laich, E, Kuzniecky, R, Mountz, J, Liu, HG, Gilliam, F, Bebin, M, Faught, E, Morawetz, R
مصطلحات موضوعية: Articles
وصف الملف: text/html
العلاقة: http://brain.oxfordjournals.org/cgi/content/short/120/5/855Test; http://dx.doi.org/10.1093/brain/120.5.855Test
الإتاحة: https://doi.org/10.1093/brain/120.5.855Test
http://brain.oxfordjournals.org/cgi/content/short/120/5/855Test -
10دورية أكاديمية
المؤلفون: Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Dean Jones, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C, Rouleau, GA
مصطلحات موضوعية: Neurology and neuromuscular diseases, CLTC, DHDDS, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25, epileptic encephalopathy
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