المؤلفون: Maroofian, R, Kaiyrzhanov, R, Cali, E, Zamani, M, Zaki, MS, Ferla, M, Tortora, D, Sadeghian, S, Saadi, SM, Abdullah, U, Karimiani, EG, Efthymiou, S, Yeşil, G, Alavi, S, Al Shamsi, AM, Tajsharghi, H, Abdel-Hamid, MS, Saadi, NW, Al Mutairi, F, Alabdi, L, Beetz, C, Ali, Z, Toosi, MB, Rudnik-Schöneborn, S, Babaei, M, Isohanni, P, Muhammad, J, Khan, S, Al Shalan, M, Hickey, SE, Marom, D, Elhanan, E, Kurian, MA, Marafi, D, Saberi, A, Hamid, M, Spaull, R, Meng, L, Lalani, S, Maqbool, S, Rahman, F, Seeger, J, Palculict, TB, Lau, T, Murphy, D, Mencacci, NE, Steindl, K, Begemann, A, Rauch, A, Akbas, S, Aslanger, AD, Salpietro, V, Yousaf, H, Ben-Shachar, S, Ejeskär, K, Al Aqeel, AI, High, FA, Armstrong-Javors, AE, Zahraei, SM, Seifi, T, Zeighami, J, Shariati, G, Sedaghat, A, Asl, SN, Shahrooei, M, Zifarelli, G, Burglen, L, Ravelli, C, Zschocke, J, Schatz, UA, Ghavideldarestani, M, Kamel, WA, Van Esch, H, Hackenberg, A, Taylor, JC, Al-Gazali, L, Bauer, P, Gleeson, JJ, Alkuraya, FS, Lupski, JR, Galehdari, H, Azizimalamiri, R, Chung, WK, Baig, SM, Houlden, H, Severino, M

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdf; https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zip; Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; et al. Maroofian, R; Kaiyrzhanov, R; Cali, E; Zamani, M; Zaki, MS; Ferla, M; Tortora, D; Sadeghian, S; Saadi, SM; Abdullah, U; Karimiani, EG; Efthymiou, S; Yeşil, G; Alavi, S; Al Shamsi, AM; Tajsharghi, H; Abdel-Hamid, MS; Saadi, NW; Al Mutairi, F; Alabdi, L; Beetz, C; Ali, Z; Toosi, MB; Rudnik-Schöneborn, S; Babaei, M; Isohanni, P; Muhammad, J; Khan, S; Al Shalan, M; Hickey, SE; Marom, D; Elhanan, E; Kurian, MA; Marafi, D; Saberi, A; Hamid, M; Spaull, R; Meng, L; Lalani, S; Maqbool, S; Rahman, F; Seeger, J; Palculict, TB; Lau, T; Murphy, D; Mencacci, NE; Steindl, K; Begemann, A; Rauch, A; Akbas, S; Aslanger, AD; Salpietro, V; Yousaf, H; Ben-Shachar, S; Ejeskär, K; Al Aqeel, AI; High, FA; Armstrong-Javors, AE; Zahraei, SM; Seifi, T; Zeighami, J; Shariati, G; Sedaghat, A; Asl, SN; Shahrooei, M; Zifarelli, G; Burglen, L; Ravelli, C; Zschocke, J; Schatz, UA; Ghavideldarestani, M; Kamel, WA; Van Esch, H; Hackenberg, A; Taylor, JC; Al-Gazali, L; Bauer, P; Gleeson, JJ; Alkuraya, FS; Lupski, JR; Galehdari, H; Azizimalamiri, R; Chung, WK; Baig, SM; Houlden, H; Severino, M (2023) Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146 (12). pp. 5031-5043. ISSN 1460-2156 https://doi.org/10.1093/brain/awad257 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116030/
https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdf
https://openaccess.sgul.ac.uk/id/eprint/116030/6/awad257_supplementary_data.zip
https://doi.org/10.1093/brain/awad257

المؤلفون: Kaiyrzhanov, R, Rocca, C, Suri, M, Gulieva, S, Zaki, MS, Henig, NZ, Siquier, K, Guliyeva, U, Mounir, SM, Marom, D, Allahverdiyeva, A, Megahed, H, van Bokhoven, H, Cantagrel, V, Rad, A, Pourkeramti, A, Dehghani, B, Shao, DD, Markus-Bustani, K, Sofrin-Drucker, E, Orenstein, N, Salayev, K, Arrigoni, F, Houlden, H, Maroofian, R

المصدر: Annals of Clinical and Translational Neurology (2022) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10150444/1/Ann%20Clin%20Transl%20Neurol%20-%202022%20-%20Kaiyrzhanov%20-%20Biallelic%20loss%20of%20EMC10%20leads%20to%20mild%20to%20severe%20intellectual%20disability.pdf; https://discovery.ucl.ac.uk/id/eprint/10150444/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10150444/1/Ann%20Clin%20Transl%20Neurol%20-%202022%20-%20Kaiyrzhanov%20-%20Biallelic%20loss%20of%20EMC10%20leads%20to%20mild%20to%20severe%20intellectual%20disability.pdf
https://discovery.ucl.ac.uk/id/eprint/10150444/

المؤلفون: Yaron, Y., Ofen Glassner, V., Mory, A., Zunz Henig, N., Kurolap, A., Bar Shira, A., Brabbing Goldstein, D., Marom, D., Ben Sira, L., Baris Feldman, H., Malinger, G., Krajden Haratz, K., Reches, A.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 60, issue 1, page 59-67 ; ISSN 0960-7692 1469-0705

الاتاحة: https://doi.org/10.1002/uog.24885
https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.24885
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/uog.24885
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.24885

المؤلفون: Tsuchida, N., Nakashima, M., Kato, M., Heyman, E., Inui, T., Haginoya, K., Watanabe, S., Chiyonobu, T., Morimoto, M., Ohta, M., Kumakura, A., Kubota, M., Kumagai, Y., Hamano, S.‐I., Lourenco, C.M., Yahaya, N.A., Ch'ng, G.‐S., Ngu, L.‐H., Fattal‐Valevski, A., Weisz Hubshman, M., Orenstein, N., Marom, D., Cohen, L., Goldberg‐Stern, H., Uchiyama, Y., Imagawa, E., Mizuguchi, T., Takata, A., Miyake, N., Nakajima, H., Saitsu, H., Miyatake, S., Matsumoto, N.

المساهمون: Takeda Science Foundation, Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development

المصدر: Clinical Genetics ; volume 93, issue 3, page 577-587 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13144
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13144
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13144

المؤلفون: Rahimi, M.J., Urban, N., Wegler, M., Sticht, H., Schaefer, M., Popp, B., Gaunitz, F., Morleo, M., Nigro, V., Maitz, S., Mancini, G.M.S., Ruivenkamp, C., Suk, E.K., Bartolomaeus, T., Merkenschlager, A., Koboldt, D., Bartholomew, D., Stegmann, A.P.A., Sinnema, M., Duynisveld, I., Salvarinova, R., Race, S., Vries, B.B.A. de, Trimouille, A., Naudion, S., Marom, D., Hamiel, U., Henig, N., Demurger, F., Rahner, N., Bartels, E., Hamm, J.A., Putnam, A.M., Person, R., Abou Jamra, R., Oppermann, H.

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

Relation: lumc-id: 177520584; https://hdl.handle.net/1887/3627583

الاتاحة: https://hdl.handle.net/1887/3627583
https://doi.org/10.1016/j.ajhg.2022.03.009

المؤلفون: Kaiyrzhanov, R., Rocca, C. La, Suri, M., Gulieva, S., Zaki, M.S., Henig, N.Z., Siquier, K., Guliyeva, U., Mounir, S.M., Marom, D., Allahverdiyeva, A., Megahed, H., Bokhoven, H. van, Cantagrel, V., Rad, A., Pourkeramti, A., Dehghani, B., Shao, D.D., Markus-Bustani, K., Sofrin-Drucker, E., Orenstein, N., Salayev, K., Arrigoni, F., Houlden, H., Maroofian, R.

المصدر: Annals of Clinical and Translational Neurology; 1080; 1089; 2328-9503; 7; 9; ~Annals of Clinical and Translational Neurology~1080~1089~~~2328-9503~7~9~~

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/282703/282703.pdf
https://repository.ubn.ru.nl/handle/2066/282703
https://doi.org/10.1002/acn3.51602

المؤلفون: Yang, K. Y., White, A. D., Ashtiani, F., Shirpurkar, C., Pericherla, S. V., Chang, L., Song, H., Zou, K., Zhou, H., Pang, K., Yang, J., Guidry, M. A., Lukin, D. M., Hao, H., Trask, L., Ahn, G. H., Netherton, A., Briles, T. C., Stone, J. R., Rechtman, L., Stone, J. S., Gasse, K., Skarda, J. L., Su, L., Vercruysse, D., Maclean, J. P. W., Aghaeimeibodi, S., Li, M. -J, Miller, D. A. B., Marom, D. M., Papp, S. B., Willner, A. E., Bowers, J. E., Delfyett, P. J., Aflatouni, F., Jelena Vučković

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097bfefb42050a3c97c79f11b50b755e
https://doi.org/10.1364/cleo_si.2022.sth4j.1

المؤلفون: Genizi, J, Marom, D, Srugo, I, Kerem, N

Relation: http://www.thejournalofheadacheandpain.com/content/15/S1/B10

الاتاحة: http://www.thejournalofheadacheandpain.com/content/15/S1/B10

المؤلفون: Marom, Daniel, Fishbane, Michael, 1943-, פישביין, מיכאל

المصدر: Jewish Culture and Creativity. (2023) 323-337

مصطلحات موضوعية: Jewish religious education, Jews -- Education -- Philosophy

Subject Person: Fishbane, Michael 1943

URL الوصول: https://uli.nli.org.il/discovery/search?query=isbn,exact,9798887193069&tab=LibraryCatalog&search_scope=MyInstitution&vid=972NNL_ULI_C:MAIN

المؤلفون: Nelson, L. E., Feuer, M. D., Abedin, K., Zhou, X., Taunay, T. F., Fini, J. M., Zhu, B., Isaac, R., Harel, R., Cohen, G., Marom, D. M.

المصدر: Journal of Lightwave Technology ; volume 32, issue 4, page 783-789 ; ISSN 0733-8724 1558-2213

الاتاحة: http://dx.doi.org/10.1109/jlt.2013.2283912
http://xplorestaging.ieee.org/ielx7/50/6701330/06623116.pdf?arnumber=6623116

المؤلفون: Pincemin, E., Song, M., Baeuerle, B., Josten, A., Hillerkuss, D., Leuthold, J., Rudnick, R., Marom, D. M., Ben-Ezra, S., Ferran, J. F., Klonidis, D., Tomkos, I.

المصدر: 2017 19th International Conference on Transparent Optical Networks (ICTON) ; page 1-4

الاتاحة: http://dx.doi.org/10.1109/icton.2017.8024915
http://xplorestaging.ieee.org/ielx7/8016447/8024717/08024915.pdf?arnumber=8024915

المؤلفون: Marom, Daniel, 1958-, Marom, Daniel, 1958-, מרום, דניאל, 1958-

المصدر: Empowering Leaders. (2021) 423-479

مصطلحات موضوعية: Educational leadership -- Study and teaching, Mandel Institute (Jerusalem)

URL الوصول: https://uli.nli.org.il/discovery/search?query=isbn,exact,9789657776834&tab=LibraryCatalog&search_scope=MyInstitution&vid=972NNL_ULI_C:MAIN

المؤلفون: Marom, Daniel, 1958-, Marom, Daniel, 1958-, מרום, דניאל, 1958-

المصدر: Empowering Leaders. (2021) 83-151

مصطلحات موضوعية: Jews -- Education, Educational leadership, Mandel Institute (Jerusalem), Mandel Foundation (Jerusalem)

URL الوصول: https://uli.nli.org.il/discovery/search?query=isbn,exact,9789657776834&tab=LibraryCatalog&search_scope=MyInstitution&vid=972NNL_ULI_C:MAIN

المؤلفون: Weisz Hubshman, M., Basel‐Vanagaite, L., Krauss, A., Konen, O., Levy, Y., Garty, B.Z., Smirin‐Yosef, P., Maya, I., Lagovsky, I., Taub, E., Marom, D., Gaash, D., Shichrur, K., Avigad, S., Hayman‐Manzur, L., Villa, A., Sobacchi, C., Shohat, M., Yaniv, I., Stein, J.

المساهمون: Giovani Ricercatori from Ministero della Salute, European Community's Seventh Framework Program

المصدر: Clinical Genetics ; volume 91, issue 6, page 902-907 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12916
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12916
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12916

المؤلفون: Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-Hamid, M. S., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Lim, M. J., Ferrie, C. D., Khan, N., Gowrinathan, N. R., McKee, S. A., Gowrishankar, K., Oades, Patrick, Hanrahan, D., King, M. D., Kirk, E. P., Kumar, R., Ramesh, V., Lin, J.-P. S-M, Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., Olivieri, I., Roubertie, A., Moroni, I., Linnankivi, T., Rasmussen, M., Mackay, M. T., Marom, D. R., Morton, J. E. V., Salvatici, E., Moutard, M.-L., Tacke, U., Ostergaard, J. R., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-Enamorado, N., Tonduti, D., Régal, L., Pérez-Dueñas, B., Tan, T. Y., Prendiville, J. S., Segers, K. A., Ricci, F., Valente, E. M., Rio, M., Webb, H. J., Rodriguez, D., Sinha, G. P., Soler, D., Spiegel, R., Livingston, J. H., te Water Naude, J., Stödberg, T. I., Straussberg, R., Swoboda, K. J., Suri, M., Whitehouse, W. P., Abdel-Salam, G. M., Van Coster, R. N., Wee Teik, K., Rozenberg, F., Thomas, M. M., Till, M., van der Knaap, M. S., Ackroyd, S., Vassallo, G., Bahi-Buisson, N., Whitney, R. N., Vijzelaar, R., Vogt, J., Wallace, G. B., Wassmer, E., Bernard, G., Lebon, P., Zaki, M. S., Bailey, K. M., Zuberi, S. M., Aeby, A., Vanderver, A., Bianchi, M., Orcesi, S., Cereda, C., Rice, G. I., Agosta, G., Albin, C., Allon-Shalev, S., Crichiutti, G., Barnerias, C., Arellano, M., Ariaudo, G., Aswani, V., Babul-Hirji, R., Chandler, K. E., Baildam, E. M., Billette de Villemeur, T., Barth, M., Dabydeen, L., Battini, R., Beresford, M. W., Blair, E. M., Bloom, M., Burlina, A. B., Figueiredo, A., Chitayat, D. A., Carpanelli, M. L., Carvalho, D. R., Castro-Gago, M., Cavallini, A., Isidor, B., Dale, R. C., Collins, A. E., Gener, B., Sierra Corcoles, C., Cordeiro, N.J. V., D'Arrigo, S., Kara, B., De Goede, C. G E L, La Piana, R., De Laet, C., De Waele, L.M. H., Denzler, I., Desguerre, I., Marques Lourenço, C., Goizet, C.

مصطلحات موضوعية: Wessex Classification Subject Headings::Paediatrics

Relation: http://dx.doi.org/10.1002/ajmg.a.36887; Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 2015, 167A (2):296-312 Am. J. Med. Genet. A; http://hdl.handle.net/11287/607463; American journal of medical genetics. Part A

الاتاحة: http://hdl.handle.net/11287/607463
https://doi.org/10.1002/ajmg.a.36887

المؤلفون: Sygletos, S., Fabbri, S. J., Giacoumidis, E., Sorokina, M., Marom, D., Stephens, M. F. C., Klonidis, D., Tomkos, I., Ellis, A. D.

المصدر: 2014 The European Conference on Optical Communication (ECOC) ; volume 25, page 1-3

الاتاحة: http://dx.doi.org/10.1109/ecoc.2014.6964112
http://xplorestaging.ieee.org/ielx7/6949035/6963816/06964112.pdf?arnumber=6964112

المؤلفون: Rudnick, R., Tolmachev, A., Sinefeld, D., Golani, O., Ben-Ezra, S., Nazarathy, M., Marom, D. M.

المصدر: 2014 The European Conference on Optical Communication (ECOC) ; page 1-3

الاتاحة: http://dx.doi.org/10.1109/ecoc.2014.6964274
http://xplorestaging.ieee.org/ielx7/6949035/6963816/06964274.pdf?arnumber=6964274

المؤلفون: Tomkos, I., Zakynthinos, P., Klonidis, D., Marom, D., Sygletos, S., Ellis, A., Salvadori, E., Siracusa, D., Angelou, M., Papastergiou, G., Psaila, N., Ferran, J.F., Ben-Ezra, S., Jimenez, F., Fernández-Palacios, J.P.

المساهمون: Li, Guifang

وصف الملف: application/pdf

Relation: https://publications.aston.ac.uk/id/eprint/25320/1/Spatial_spectral_flexible_optical_networking.pdf; Tomkos, I., Zakynthinos, P., Klonidis, D., Marom, D., Sygletos, S. , Ellis, A. , Salvadori, E., Siracusa, D., Angelou, M., Papastergiou, G., Psaila, N., Ferran, J.F., Ben-Ezra, S., Jimenez, F. and Fernández-Palacios, J.P. (2014). Spatial-spectral flexible optical networking:enabling switching solutions for a simplified and efficient SDM network platform. IN: Next-generation optical communication. Li, Guifang (ed.) SPIE proceedings . USA: SPIE.

الاتاحة: https://publications.aston.ac.uk/id/eprint/25320/
https://publications.aston.ac.uk/id/eprint/25320/1/Spatial_spectral_flexible_optical_networking.pdf

المؤلفون: Agmon, A., Nazarathy, M., Marom, D. M., Ben-Ezra, S., Tolmachev, A., Killey, R., Bayvel, P., Meder, L., Hübner, M., Meredith, W., Vickers, G., Schindler, P. C., Schmogrow, R., Hillerkuss, D., Freude, W., Leuthold, J.

مصطلحات موضوعية: ddc:620, Engineering & allied operations, info:eu-repo/classification/ddc/620

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-1-55752-962-6; https://publikationen.bibliothek.kit.edu/1000041137

الاتاحة: https://publikationen.bibliothek.kit.edu/1000041137

المؤلفون: Klonidis, D., Sygletos, S., Marom, D. M., Fabbri, S., Ellis, A., Pincemin, E., Betoule, C., Thouenon, G., Hillerkuss, D., Baeuerle, B., Josten, A., Leuthold, J., Zhao, J., Ben-Ezra, S., Ferran, J. F., Angelou, M., Papastergiou, G., Zakynthinos, P., Tomkos, I.

المصدر: 2014 16th International Conference on Transparent Optical Networks (ICTON)

الاتاحة: http://dx.doi.org/10.1109/icton.2014.6876599
http://xplorestaging.ieee.org/ielx7/6867035/6876260/06876599.pdf?arnumber=6876599