المؤلفون: N. Agafonova, A. Alexandrov, A. Anokhina, S. Aoki, A. Ariga, T. Ariga, A. Bertolin, C. Bozza, R. Brugnera, A. Buonaura, S. Buontempo, M. Chernyavskiy, A. Chukanov, L. Consiglio, N. D'Ambrosio, G. De Lellis, M. De Serio, P. del Amo Sanchez, A. Di Crescenzo, D. Di Ferdinando, N. Di Marco, S. Dmitrievsky, M. Dracos, D. Duchesneau, S. Dusini, T. Dzhatdoev, J. Ebert, A. Ereditato, J. Favier, R. A. Fini, F. Fornari, T. Fukuda, G. Galati, A. Garfagnini, V. Gentile, J. Goldberg, S. Gorbunov, Y. Gornushkin, G. Grella, A. M. Guler, C. Gustavino, C. Hagner, T. Hara, T. Hayakawa, A. Hollnagel, K. Ishiguro, A. Iuliano, K. Jakovcic, C. Jollet, C. Kamiscioglu, M. Kamiscioglu, S. H. Kim, N. Kitagawa, B. Klicek, K. Kodama, M. Komatsu, U. Kose, I. Kreslo, F. Laudisio, A. Lauria, A. Longhin, P. Loverre, M. Malenica, A. Malgin, G. Mandrioli, T. Matsuo, V. Matveev, N. Mauri, E. Medinaceli, A. Meregaglia, S. Mikado, M. Miyanishi, F. Mizutani, P. Monacelli, M. C. Montesi, K. Morishima, M. T. Muciaccia, N. Naganawa, T. Naka, M. Nakamura, T. Nakano, K. Niwa, S. Ogawa, A. Olchevsky, N. Okateva, K. Ozaki, A. Paoloni, L. Paparella, B. D. Park, L. Pasqualini, A. Pastore, L. Patrizii, H. Pessard, C. Pistillo, D. Podgrudkov, N. Polukhina, M. Pozzato, F. Pupilli, M. Roda, T. Roganova, H. Rokujo, G. Rosa, O. Ryazhskaya, A. Sadovsky, O. Sato, A. Schembri, I. Shakiryanova, T. Shchedrina, E. Shibayama, H. Shibuya, T. Shiraishi, S. Simone, C. Sirignano, G. Sirri, A. Sotnikov, M. Spinetti, L. Stanco, N. Starkov, S. M. Stellacci, M. Stipcevic, P. Strolin, S. Takahashi, M. Tenti, F. Terranova, V. Tioukov, S. Tufanli, A. Ustyuzhanin, S. Vasina, P. Vilain, E. Voevodina, L. Votano, J. L. Vuilleumier, G. Wilquet, B. Wonsak, C. S. Yoon

المصدر: SciPost Physics Proceedings, Iss 1, p 028 (2019)

مصطلحات موضوعية: Physics, QC1-999

وصف الملف: electronic resource

العلاقة: https://scipost.org/SciPostPhysProc.1.028Test; https://doaj.org/toc/2666-4003Test

الوصول الحر: https://doaj.org/article/b68999e1aa274a24a9cc29aff6cd6994Test

المؤلفون: Bermon, S, Vilain, E, Fenichel, P, Ritzen, M

المصدر: The Journal of clinical endocrinology and metabolism. 100(3):828-830

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131177103Test

المؤلفون: Bashamboo, A, Donohoue, PA, Vilain, E, Rojo, S, Calvel, P, Seneviratne, SN, Buonocore, F, Barseghyan, H, Bingham, N, Rosenfeld, JA, Mulukutla, SN, Jain, M, Burrage, L, Dhar, S, Balasubramanyam, A, Lee, B, Members of UDN, ., Dumargne, MC, Eozenou, C, Suntharalingham, JP, de Silva, K, Lin, L, Bignon-Topalovic, J, Poulat, F, Lagos, CF, McElreavey, K, Achermann, JC

المصدر: Human Molecular Genetics , 25 (16) pp. 3446-3453. (2016)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1503754/1/ddw390.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1503754Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1503754/1/ddw390.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1503754Test/

المؤلفون: Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., Vissers, L.E.L.M.

المصدر: American Journal of Human Genetics, 108, 2, pp. 346-356

مصطلحات موضوعية: Neuroinformatics, Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest; https://hdl.handle.net/2066/231687Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://hdl.handle.net/2066/231687Test
https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest

المؤلفون: Chen, D., Strang, J.F., Kolbuck, V.D., Rosenthal, S.M., Wallen, K., Waber, D.P., Steinberg, L., Sisk C.L., Ross, J., Paus, T., Mueller, S.C., McCarthy, M.M., Micevych, P.E., Martin, C.L., Kreukels, B.P.C., Kenworthy, L., Herting, M.M., Herlitz, A., Haraldsen, I.R.J.H., Dahl, R., Crone, E.A., Chelune, G.J., Burke, S.M., Berenbaum, S.A., Beltz, A.M., Bakker, J., Eliot, L., Vilain, E., Wallace, G.L., Nelson, E.E., Garofalo, R.

المصدر: Transgender health

وصف الملف: application/pdf

العلاقة: lucris-id: 368391061; https://hdl.handle.net/1887/3161240Test

الإتاحة: https://doi.org/10.1089/trgh.2020.0006Test
https://hdl.handle.net/1887/3161240Test

المؤلفون: Pichavant, M, Rémy, G, Bekaert, S, Le Rouzic, O, Kervoaze, G, Vilain, E, Just, N, Tillie-Leblond, I, Trottein, F, Cataldo, D, Gosset, P

المصدر: Mucosal Immunology ; volume 7, issue 3, page 568-578 ; ISSN 1933-0219

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1038/mi.2013.75Test
http://www.nature.com/articles/mi201375.pdfTest
http://www.nature.com/articles/mi201375Test
https://api.elsevier.com/content/article/PII:S193302192201073X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S193302192201073X?httpAccept=text/plainTest

المؤلفون: Ng B. G., Sosicka P., Agadi S., Almannai M., Bacino C. A., Barone R., Botto L. D., Burton J. E., Carlston C., Chung B. H. -Y., Cohen J. S., Coman D., Dipple K. M., Dorrani N., Dobyns W. B., Elias A. F., Epstein L., Gahl W. A., Garozzo D., Hammer T. B., Haven J., Heron D., Herzog M., Hoganson G. E., Hunter J. M., Jain M., Juusola J., Lakhani S., Lee H., Lee J., Lewis K., Longo N., Lourenco C. M., Mak C. C. Y., McKnight D., Mendelsohn B. A., Mignot C., Mirzaa G., Mitchell W., Muhle H., Nelson S. F., Olczak M., Palmer C. G. S., Partikian A., Patterson M. C., Pierson T. M., Quinonez S. C., Regan B. M., Ross M. E., Guillen Sacoto M. J., Scaglia F., Scheffer I. E., Segal D., Singhal N. S., Striano P., Sturiale L., Symonds J. D., Tang S., Vilain E., Willis M., Wolfe L. A., Yang H., Yano S., Powis Z., Suchy S. F., Rosenfeld J. A., Edmondson A. C., Grunewald S., Freeze H. H.

المساهمون: Ng, B. G., Sosicka, P., Agadi, S., Almannai, M., Bacino, C. A., Barone, R., Botto, L. D., Burton, J. E., Carlston, C., Chung, B. H. -Y., Cohen, J. S., Coman, D., Dipple, K. M., Dorrani, N., Dobyns, W. B., Elias, A. F., Epstein, L., Gahl, W. A., Garozzo, D., Hammer, T. B., Haven, J., Heron, D., Herzog, M., Hoganson, G. E., Hunter, J. M., Jain, M., Juusola, J., Lakhani, S., Lee, H., Lee, J., Lewis, K., Longo, N., Lourenco, C. M., Mak, C. C. Y., Mcknight, D., Mendelsohn, B. A., Mignot, C., Mirzaa, G., Mitchell, W., Muhle, H., Nelson, S. F., Olczak, M., Palmer, C. G. S., Partikian, A., Patterson, M. C., Pierson, T. M., Quinonez, S. C., Regan, B. M., Ross, M. E., Guillen Sacoto, M. J., Scaglia, F., Scheffer, I. E., Segal, D., Singhal, N. S., Striano, P., Sturiale, L., Symonds, J. D., Tang, S., Vilain, E., Willis, M., Wolfe, L. A., Yang, H., Yano, S., Powis, Z., Suchy, S. F., Rosenfeld, J. A., Edmondson, A. C., Grunewald, S., Freeze, H. H.

مصطلحات موضوعية: congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDP-galactose

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30817854; info:eu-repo/semantics/altIdentifier/wos/WOS:000477673000009; volume:40; firstpage:908; lastpage:925; numberofpages:18; journal:HUMAN MUTATION; http://hdl.handle.net/11567/1022041Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065023838

الإتاحة: https://doi.org/10.1002/humu.23731Test
http://hdl.handle.net/11567/1022041Test

المؤلفون: Da Silva, T.E., Gomes, N.L., Lerario, A.M., Keegan, C.E., Nishi, M.Y., Carvalho, F.M., Vilain, E., Barseghyan, H., Martínez Aguayo, Alejandro Gregorio, Forclaz, M.V., Papazian, R., De Paula, L.C.P., Costa, E.C., Carvalho, L.R., Lima Jorge, A.A., Martins Elias, F., Mitchell, R., Frade Costa, E.M., Bilharinho Mendonca, B., Domenice, S.

وصف الملف: 12 páginas; application/pdf

العلاقة: https://doi.org/10.1210/jc.2019-00984Test; https://repositorio.uc.cl/handle/11534/48567Test

الإتاحة: https://doi.org/10.1210/jc.2019-00984Test
https://repositorio.uc.cl/handle/11534/48567Test

المؤلفون: White, S, Ohnesorg, T, Notini, A, Roeszler, K, Hewitt, J, Daggag, H, Smith, C, Turbitt, E, Gustin, S, van den Bergen, J, Miles, D, Western, P, Arboleda, V, Schumacher, V, Gordon, L, Bell, K, Bengtsson, H, Speed, T, Hutson, J, Warne, G, Harley, V, Koopman, P, Vilain, E, Sinclair, A

المساهمون: Orban, L

العلاقة: White, S., Ohnesorg, T., Notini, A., Roeszler, K., Hewitt, J., Daggag, H., Smith, C., Turbitt, E., Gustin, S., van den Bergen, J., Miles, D., Western, P., Arboleda, V., Schumacher, V., Gordon, L., Bell, K., Bengtsson, H., Speed, T., Hutson, J. ,. Sinclair, A. (2011). Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis. PLOS ONE, 6 (3), https://doi.org/10.1371/journal.pone.0017793Test.; http://hdl.handle.net/11343/263935Test

الإتاحة: https://doi.org/10.1371/journal.pone.0017793Test
http://hdl.handle.net/11343/263935Test

المؤلفون: Rocks, Natacha, Estrella, C, Paulissen, Geneviève, Quesada Calvo, Florence, Noël, Agnès, Vilain, E., Lassalle, P., Tillie-Leblond, I., Cataldo, Didier, Gosset, P

المصدر: American Journal of Respiratory Cell and Molecular Biology, 41 (4), 449-58 (2009)

مصطلحات موضوعية: ADAM-12, allergy, airway epithelial cell, neutrophil, inflammation, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

العلاقة: urn:issn:1044-1549; urn:issn:1535-4989; https://orbi.uliege.be/handle/2268/5767Test; info:hdl:2268/5767; https://orbi.uliege.be/bitstream/2268/5767/1/Rocks%20N%2a%202009.pdfTest; scopus-id:2-s2.0-70349139655; info:pmid:19213876

الإتاحة: https://doi.org/10.1165/rcmb.2008-0124OCTest
https://orbi.uliege.be/handle/2268/5767Test
https://orbi.uliege.be/bitstream/2268/5767/1/Rocks%20N%2a%202009.pdfTest