المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173027Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173027Test/

المؤلفون: Tamim-Yecheskel B. -C., Fraiberg M., Kokabi K., Freud S., Shatz O., Marvaldi L., Subic N., Brenner O., Tsoory M., Eilam-Altstadter R., Biton I., Savidor A., Dezorella N., Heimer G., Behrends C., Ben-Zeev B., Elazar Z.

المساهمون: Tamim-Yecheskel B.-C., Fraiberg M., Kokabi K., Freud S., Shatz O., Marvaldi L., Subic N., Brenner O., Tsoory M., Eilam-Altstadter R., Biton I., Savidor A., Dezorella N., Heimer G., Behrends C., Ben-Zeev B., Elazar Z.

مصطلحات موضوعية: Autophagy, axonal dystrophy, lysosome, neurodegeneration, SPG49, TECPR2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33218264; info:eu-repo/semantics/altIdentifier/wos/WOS:000597405100001; volume:17; issue:10; firstpage:3082; lastpage:3095; numberofpages:14; journal:AUTOPHAGY; http://hdl.handle.net/2318/1849709Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096839766

الإتاحة: https://doi.org/10.1080/15548627.2020.1852724Test
http://hdl.handle.net/2318/1849709Test

المؤلفون: Stamberger, H, Hammer, TB, Gardella, E, Vlaskamp, DRM, Bertelsen, B, Mandelstam, S, Lange, I, Zhang, J, Myers, CT, Fenger, C, Afawi, Z, Almanza Fuerte, EP, Andrade, DM, Balcik, Y, Ben Zeev, B, Bennett, MF, Berkovic, SF, Isidor, B, Bouman, Arjan, Brilstra, E, Busk, ØL, Cairns, A, Caumes, R, Chatron, N, Dale, RC, de Geus, C, Edery, P, Gill, D, Granild-Jensen, JB, Gunderson, L, Gunning, B, Heimer, G, Helle, JR, Hildebrand, MS, Hollingsworth, G, Kharytonov, V, Klee, EW, Koeleman, BPC, Koolen, DA (David), Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, RJ, Mackay, MT, Macke, EL, McEntagart, M, Mohammad, SS, Monin, P, Montomoli, M

المصدر: Stamberger , H , Hammer , TB , Gardella , E , Vlaskamp , DRM , Bertelsen , B , Mandelstam , S , Lange , I , Zhang , J , Myers , CT , Fenger , C , Afawi , Z , Almanza Fuerte , EP , Andrade , DM , Balcik , Y , Ben Zeev , B , Bennett , MF , Berkovic , SF , Isidor , B , Bouman , A , Brilstra , E , Busk , ØL , Cairns , A , Caumes , R , Chatron , N , Dale ....

الإتاحة: https://doi.org/10.1038/s41436-020-00988-9Test
https://pure.eur.nl/en/publications/be1c259f-7c9a-4ffe-8c90-cf355d9e1348Test
http://www.gimjournal.org/article/S109836002102548X/pdfTest

المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L., 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., Cimbalistiene, L., Coon, H., Delot, E.C., Demurger, F., Denomme-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C., 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., Kucinskas, V., Kuechler, A., Lavillaureix, A., Liu, P.F., Fisher, Simon E.

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A J M , Guex , N , Wiel , L , 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 , Cimbalistiene , L , Coon , H , Delot , E C , Demurger , F , Denomme-Pichon , A S ....

مصطلحات موضوعية: MISSENSE MUTATIONS, BINDING PROTEIN, EXPRESSION, INTERLEUKIN-2, CHROMATIN, REGION, GENES

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://cris.maastrichtuniversity.nl/en/publications/e49bdbbc-76c5-4fd5-ba44-8898c9f6a550Test

المؤلفون: Hedrich, UBS, Lauxmann, S, Wolff, M, Synofzik, M, Bast, T, Binelli, A, Serratosa, JM, Martinez-Ulloa, P, Allen, NM, King, MD, Gorman, KM, Ben Zeev, B, Tzadok, M, Wong-Kisiel, L, Marjanovic, D, Rubboli, G, Sisodiya, SM, Lutz, F, Ashraf, HP, Torge, K, Yan, P, Bosselmann, C, Schwarz, N, Fudali, M, Lerche, H

المصدر: Science Translational Medicine , 13 (609) , Article eaaz4957. (2021)

وصف الملف: text; image

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137729/19/Sisodiya_aaz4957_ArticleContent_MM-HL-UH-SL-Final.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137729/4/Fig_1.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/9/Fig_2.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/14/Fig_3.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/24/Sisodiya_aaz4957_SupplementalMaterial_MM_UH-HL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137729Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10137729/19/Sisodiya_aaz4957_ArticleContent_MM-HL-UH-SL-Final.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137729/4/Fig_1.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/9/Fig_2.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/14/Fig_3.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/24/Sisodiya_aaz4957_SupplementalMaterial_MM_UH-HL.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137729Test/

المؤلفون: Neuser, S, Brechmann, B, Heimer, G, Brösse, I, Schubert, S, O'Grady, L, Zech, M, Srivastava, S, Sweetser, DA, Dincer, Y, Mall, V, Winkelmann, J, Behrends, C, Darras, BT, Graham, RJ, Jayakar, P, Byrne, B, Bar-Aluma, BE, Haberman, Y, Szeinberg, A, Aldhalaan, HM, Hashem, M, Al Tenaiji, A, Ismayl, O, Al Nuaimi, AE, Maher, K, Ibrahim, S, Khan, F, Houlden, H, Ramakumaran, VS, Pagnamenta, AT, Posey, JE, Lupski, JR, Tan, W-H, ElGhazali, G, Herman, I, Muñoz, T, Repetto, GM, Seitz, A, Krumbiegel, M, Poli, MC, Kini, U, Efthymiou, S, Meiler, J, Maroofian, R, Alkuraya, FS, Abou Jamra, R, Popp, B, Ben-Zeev, B, Ebrahimi-Fakhari, D

المصدر: Human Mutation (2021) (In press).

مصطلحات موضوعية: Human Phenotype Ontology, TECPR2, neurodevelopmental disorder, sensory autonomic neuropathy, spastic paraplegia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127587Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10127587Test/

المؤلفون: Jefferson, A, Leonard, H, Siafarikas, A, Woodhead, H, Fyfe, S, Ward, LM, Munns, C, Motil, K, Tarquinio, D, Shapiro, JR, Brismar, T, Ben-Zeev, B, Bisgaard, AM, Coppola, G, Ellaway, C, Freilinger, M, Geerts, S, Humphreys, P, Jones, M, Lane, J, Larsson, G, Lotan, M, Percy, A, Pineda, M, Skinner, S, Syhler, B, Thompson, S, Weiss, B, Engerstrom, IW, Downs, J

المصدر: PloS one. 11(2):e0146824

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:132921604Test

المؤلفون: Genetti, CA, Pinelli, M, Brunetti-Pierri, N, Garza-Flores, A, Shahani, D, Saneto, RP, Zampino, G, Leoni, C, Agolini, E, Novelli, A, Haack, BUBTB, Heinritz, W, Matzker, E, Alhaddad, B, Abou Jamra, R, Bartolomaeus, T, AlHamdan, S, Carapito, R, Isidor, B, Bahram, S, Ritter, A, Izumi, K, Shakked, B, Barel, O, Ben Zeev, B, Begtrup, A, Carere, DA, Mullegama, SV, Palculict, TB, Calame, DG, Schwan, K, Aycinena, ARP, Traberg, R, Douzgou, S, Pirt, H, Banka, S, Chao, HT

المصدر: Genetti , CA , Pinelli , M , Brunetti-Pierri , N , Garza-Flores , A , Shahani , D , Saneto , RP , Zampino , G , Leoni , C , Agolini , E , Novelli , A , Haack , BUBTB , Heinritz , W , Matzker , E , Alhaddad , B , Abou Jamra , R , Bartolomaeus , T , AlHamdan , S , Carapito , R , Isidor , B , Bahram , S , Ritter , A , Izumi , K , Shakked , B , Barel , O , Ben Zeev ....

العلاقة: https://research.manchester.ac.uk/en/publications/5bb96e6d-bf49-4bef-9208-796742127be1Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.02.010Test
https://research.manchester.ac.uk/en/publications/5bb96e6d-bf49-4bef-9208-796742127be1Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000957203200001&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Sapir, T, Barakat, Stefan, Paredes, MF, Lerman-Sagie, T, Aronica, E, Klonowski, W, Nguyen, L, Ben Zeev, B, Bahi-Buisson, N, Leventer, R, Rachmian, N, Reiner, O

المصدر: Sapir , T , Barakat , S , Paredes , MF , Lerman-Sagie , T , Aronica , E , Klonowski , W , Nguyen , L , Ben Zeev , B , Bahi-Buisson , N , Leventer , R , Rachmian , N & Reiner , O 2019 , ' Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research ' , Frontiers in Cellular Neuroscience , vol. 13 , 434 . https://doi.org/10.3389/fncel.2019.00434Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3389/fncel.2019.00434Test
https://pure.eur.nl/en/publications/453e3171-2f9b-4b1d-8f36-ea1ba6adda32Test
https://pure.eur.nl/ws/files/48243495/Repub_120405_O-A.pdfTest
http://hdl.handle.net/1765/120405Test

المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, Loreta, Coon, Hilary, study, The DDD, Délot, Emmanuèlle C, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, C., Donnai, Dian, Dyment, David A, Elpeleg, Orly, Faivre, L, Gilissen, Christian, Granger, L., Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy Blake, Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Blok, Lot Snijders, Spillmann, Rebecca C., Stegmann, Alexander P A, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia C., Zuccarelli, Britton D, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E L M

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S , Banka , S , Bena , F , Ben-Zeev , B , Bonagura , V , Bruel , A , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistienė , L , Coon , H , study , T DDD , Délot , E C , Démurger , F , Denommé-Pichon , A-S , Depienne ....

العلاقة: https://research.manchester.ac.uk/en/publications/852f1155-ef4a-453c-8289-2881abeab005Test

الإتاحة: https://doi.org/10.1101/2020.10.23.352278Test
https://research.manchester.ac.uk/en/publications/852f1155-ef4a-453c-8289-2881abeab005Test
http://europepmc.org/abstract/PPR/PPR229744Test