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1Academic Journal
المؤلفون: Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, Van Zuydam N, Walker SM, Woods CG, Bennett DLH
المصدر: Brain Communications, 2023
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/291073; https://eprints.ncl.ac.uk/fulltext.aspx?url=291073/DE078958-2ACB-4754-8069-5BBD67A1DF3C.pdf&pub_id=291073
الاتاحة: https://eprints.ncl.ac.uk/291073
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2Academic Journal
المؤلفون: Themistocleous, AC, Baskozos, G, Blesneac, I, Comini, M, Megy, K, Chong, S, Deevi, SVV, Ginsberg, L, Gosal, D, Hadden, RDM, Horvath, R, Mahdi-Rogers, M, Manzur, A, Mapeta, R, Marshall, A, Matthews, E, McCarthy, MI, Reilly, MM, Renton, T, Rice, ASC, Vale, TA, van Zuydam, N, Walker, SM, Woods, CG, Bennett, DLH
المساهمون: BioResource, NIHR
Relation: https://ora.ox.ac.uk/objects/uuid:da15e595-aa30-482e-8c72-11a11a7efa52; https://doi.org/10.1093/braincomms/fcad037
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3Academic Journal
المؤلفون: Lee, MC, Nahorski, MS, Hockley, JRF, Lu, V, Ison, G, Pattison, LA, Callejo, G, Stouffer, K, Fletcher, E, Brown, C, Drissi, I, Wheeler, D, Ernfors, P, Menon, D, Reimann, F, Smith, ES, Woods, CG
المصدر: Cell reports. 32(3):107941
مصطلحات موضوعية: Medicin och hälsovetenskap
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4Academic Journal
المؤلفون: Middleton, SJ, Perini, I, Andreas C, T, Weir, GA, McCann, K, Barry, AM, Marshall, A, Lee, M, Mayo, LM, Bohic, M, Baskozos, G, Morrison, I, Löken, LS, McIntyre, S, Nagi, SS, Staud, R, Sehlstedt, I, Johnson, RD, Wessberg, J, Wood, JN, Woods, CG, Moqrich, A, Olausson, H, Bennett, DL
Relation: https://ora.ox.ac.uk/objects/uuid:ab4a00ed-5ece-48a1-8cc5-95b46c2dbb5b; https://doi.org/10.1093/brain/awab482
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5Academic Journal
المؤلفون: Middleton, SJ, Perini, I, Andreas C, T, Weir, GA, McCann, K, Barry, AM, Marshall, A, Lee, M, Mayo, LM, Bohic, M, Baskozos, G, Morrison, I, Löken, LS, McIntyre, S, Nagi, SS, Staud, R, Sehlstedt, I, Johnson, RD, Wessberg, J, Wood, JN, Woods, CG, Moqrich, A, Olausson, H, Bennett, DL
المصدر: Brain , Article awab482. (2021) (In press).
مصطلحات موضوعية: affective touch, C-low threshold mechanoreceptors, congenital insensitivity to pain, Nav1.7
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10142415/1/awab482.pdf; https://discovery.ucl.ac.uk/id/eprint/10142415/
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6Academic Journal
مصطلحات موضوعية: hereditary sensory and autonomic neuropathy, congenital insensitivity to pain, small fiber neuropathy, sodium channels
وصف الملف: application/pdf
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7Academic Journal
المصدر: Medizinische Genetik , 32 (3) pp. 233-241. (2020)
مصطلحات موضوعية: hereditary sensory and autonomic neuropathy, congenital insensitivity to pain, small fiber neuropathy, sodium channels
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10115093/1/%5B18635490%20-%20Medizinische%20Genetik%5D%20Peripheral%20sensory%20neuropathies%20%E2%80%93%20pain%20loss%20vs.%20pain%20gain.pdf; https://discovery.ucl.ac.uk/id/eprint/10115093/
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8Academic Journal
المؤلفون: French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH
Relation: https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6; https://doi.org/10.1007/s00134-019-05552-x
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9Academic Journal
المؤلفون: Chen, YC, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, LTY, Young, GT, Weiss, C, Schabhuttl, M, Stucka, R, Schmid, AB, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, RM, Hertz, JM, Moog, U, Baumgartner, M, Valente, EM, Pereira, D, Restrepo, CM, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, PJ, Nahorski, MS, Shaikh, SS, Carvalho, OP, Nicholas, AK, Karbani, G, McAleer, MA, Cilio, MR, McHugh, JC, Murphy, SM, Irvine, AD, Jensen, UB, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B, Baets, J, De Jonghe, P, Reilly, MM, Kropatsch, R, Kurth, I, Chrast, R, Michiue, T, Bennett, DLH, Woods, CG, Senderek, J
المصدر: Nature genetics. 47(7):803
مصطلحات موضوعية: Medicin och hälsovetenskap
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10Academic Journal
المؤلفون: Nahorski, MS, Borner, GHH, Shaikh, SS, Davies, AK, Al-Gazali, L, Antrobus, R, Woods, CG
المصدر: Nahorski , MS , Borner , GHH , Shaikh , SS , Davies , AK , Al-Gazali , L , Antrobus , R & Woods , CG 2018 , ' Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development. ' , Scientific Reports . https://doi.org/10.1038/s41598-018-19980-0
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11Academic Journal
المؤلفون: Woods, CG, Shaikh, samiha, Nahorski, michael, raj, harjeet
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P
المصدر: American Journal of Human Genetics, January 01, 2017
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/237791; https://eprints.ncl.ac.uk/fulltext.aspx?url=237791/9D11F881-3847-4190-84A3-AE5EB0BFDC49.pdf&pub_id=237791
الاتاحة: https://eprints.ncl.ac.uk/237791
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13Academic Journal
المؤلفون: Mosca, S, Raponi, M, Meneghello, A, Buratti, E, Woods, CG, Baralle, D
مصطلحات موضوعية: Alternative Splicing, Animals, Base Sequence, Brain, Exons, Gene Expression Regulation, Developmental, Humans, Mice, Microtubule-Associated Proteins, RNA Splicing, Regulatory Sequences, Nucleic Acid
وصف الملف: Electronic; application/pdf
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14Academic Journal
المؤلفون: Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, RA, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, McKie, L, Mort, RL, Gammoh, N, Garcia-Munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P
مصطلحات موضوعية: Phospholipase A2-activating protein, Ufd3, autophagy, cerebellum, endolysosomal trafficking, microcephaly, seizures, synapse, synaptic vesicle recycling, ubiquitin
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Bacchelli, C, Moretti, FA, Carmo, M, Adams, S, Stanescu, HC, Pearce, K, Madkaikar, M, Gilmour, KC, Nicholas, AK, Woods, CG, Kleta, R, Beales, PL, Qasim, W, Gaspar, HB
المصدر: Journal of Allergy and Clinical Immunology , 139 (2) pp. 634-642. (2017)
مصطلحات موضوعية: Severe combined immunodeficiency, T lymphopenia, T-cell receptor signaling, genetic defect, immunodeficiency, linker for activation of T cells
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1508704/1/Bacchelli_Mutations%20in%20linker_aam.pdf; https://discovery.ucl.ac.uk/id/eprint/1508704/
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16Academic Journal
المؤلفون: Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM Collaborators Leventer R, Grattan Smith P, Janecke A, D'Hooghe M, Van Coster R, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Abdel Salam GM, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Philippi H, Tzeli SK, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Stuart B, Magee A, Lev D, Michelson M, Ben Zeev B, Fischetto R, Gentile M, Battaglia S, Giordano L, Pinelli L, Boccone L, Ruggieri M, BIGONI, Stefania, FERLINI, Alessandra, Donati MA, Procopio E, Caridi G, Faravelli F, Ghiggeri G, Briuglia S, Salpietro CD, Tortorella G, D'Arrigo S, Pantaleoni C, Riva D, Uziel G, Laverda AM, Permunian A, Bova S, Battini R, Cilio MR, Di Sabato M, Leuzzi V, Parisi P, Simonati A, Al Tawari AA, Bastaki L, de Jong MM, Koul R, Rajab A, Azam M, Barbot C, Rodriguez B, Pascual Castroviejo I, Kayserili H, Comu S, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Hennekam R, Lees M, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.
المساهمون: Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, Jl, Barrano, G, Bertini, E, Emma, F, Rigoli, L, International JSRD Study, Group, Dallapiccola, B, Gleeson, Jg, Valente EM Collaborators Leventer, R, Grattan Smith, P, Janecke, A, D'Hooghe, M, Van Coster, R, Dias, K, Moco, C, Moreira, A, Kim, Ca, Maegawa, G, Abdel Salam, Gm, Abdel Aleem, A, Zaki, M, Marti, I, Quijano Roy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Stuart, B, Magee, A, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Pinelli, L, Boccone, L, Ruggieri, M, Bigoni, Stefania, Ferlini, Alessandra, Donati, Ma, Procopio, E, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Salpietro, Cd, Tortorella, G, D'Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari, Aa, Bastaki, L, de Jong, Mm, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Kayserili, H, Comu, S, Akcakus, M, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Hennekam, R, Lees, M, Bernes, S, Sanchez, H, Clark, Ae
مصطلحات موضوعية: Joubert syndrome-related disorder, molar tooth sign, nephronophthisi, RPGRIP1L
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/18565097; info:eu-repo/semantics/altIdentifier/wos/WOS:000257476200008; volume:74; issue:2; firstpage:164; lastpage:170; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11392/533191; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdf
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17Academic Journal
المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha L, Zankl A, Leventer R, Grattan Smith P, Janecke A, Koch J, Freilinger M, D'Hooghe M, Sznajer Y, Vilain C, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Dakovic I, Loncarevic D, Mejaski Bosnjak V, Petkovic D, Abdel Salam GM, Abdel Aleem A, Marti I, Pinard JM, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Dollfus H, Flori E, Fradin M, Lagier Tourenne C, Messer J, Collignon P, Penzien JM, Bussmann C, Merkenschlager A, Philippi H, Kurlemann G, Grundmann K, Dacou Voutetakis C, Kitsiou Tzeli S, Pons R, Jerney J, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Girisha KM, Doshi H, Udani V, Kaul M, Stuart B, Magee A, Spiegel R, Shalev S, Mandel H, Lev D, Michelson M, Idit M, Ben Zeev B, Gershoni Baruch R, Ficcadenti A, Fischetto R, Gentile M, Della Monica M, Pezzani M, Graziano C, Seri M, Benedicenti F, Stanzial F, Borgatti R, Romaniello R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Barone R, Sorge G, Briatore E, Bigoni S, Ferlini A, Donati MA, Biancheri R, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Mirabelli M, Pessagno A, Rossi A, Uliana V, Amorini M, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Bonati MT, Castorina P, D'Arrigo S, Lalatta F, Marra G, Moroni I, Pantaleoni C, Riva D, Scelsa B, Spaccini L, Del Giudice E, Ludwig K, Permunian A, Suppiej A, Macaluso C, Pichiecchio A, Battini R, Di Giacomo M, Priolo M, Timpani P, Pagani G, Di Sabato ML, Emma F, Leuzzi V, Mancini F, Majore S, Micalizzi A, Parisi P, Romani M, Stringini G, Zanni G, Ulgheri L, Pollazzon, M, RENIERI, ALESSANDRA, Belligni E, Grosso E, Pieri I, Silengo M, Devescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, Said E, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Salih MA, Tabarki B, Jocic Jakubi B, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Gener B, Puschmann A, Starck L, Capone A, Lemke J, Fluss J, Niedrist D, Hennekam RC, Wolf N, Gouider Khouja N, Kraoua I, Ceylaner S, Teber S, Akgul M, Anlar B, Comu S, Kayserili H, Yüksel A, Akcakus M, Caglayan AO, Aldemir O, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hemingway C, Lees M, Wakeling E, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Karaca E, Swoboda KJ, Viskochil D, Dobyns WB, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente
المساهمون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thoma, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gm, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P
مصطلحات موضوعية: Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/23386033; info:eu-repo/semantics/altIdentifier/wos/WOS:000324727200014; ispartofbook:European Journal of Human Genetics; volume:21; issue:10; firstpage:1074; lastpage:1078; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/960289; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278
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18Academic Journal
المؤلفون: Farmer, C, Cox, JJ, Fletcher, EV, Woods, CG, Wood, JN, Schorge, S
المصدر: PLOS One , 7 (7) , Article e41750. (2012)
مصطلحات موضوعية: Alternative Splicing, Biophysical Phenomena, Exons, HEK293 Cells, Humans, Ion Channel Gating, NAV1.7 Voltage-Gated Sodium Channel, Protein Subunits
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/1358304/1/1358304.pdf; https://discovery.ucl.ac.uk/id/eprint/1358304/
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19Academic Journal
المؤلفون: van Bon, BWM, Mefford, HC, Menten, Björn, Koolen, DA, Sharp, AJ, Nillesen, WM, Innis, JW, de Ravel, TJL, Mercer, CL, Fichera, M, Stewart, H, Connell, LE, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, MA, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, EM, Baker, C, Finnemore, P, Huang, S, Maloney, VK, Crolla, JA, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, JP, Janssens, Sandra, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, Bart, Woods, CG, Oostra, Ann, Speleman, Franki, Pereira, AC, Kurg, A, Willatt, L, Knight, SJL, Vermeesch, JR, Romano, C, Barber, JC, Mortier, Geert, Perez-Jurado, LA, Kooy, F, Brunner, HG, Eichler, EE, Kleefstra, T, de Vries, BBA
المصدر: JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593
مصطلحات موضوعية: LINKAGE DISEQUILIBRIUM, CHROMOSOME 22Q11, PRADER-WILLI, MENTAL-RETARDATION, SEGMENTAL DUPLICATIONS, MOLECULAR CHARACTERIZATION, ARRAY-CGH, ABSENT-RADIUS SYNDROME, HUMAN GENOME, COPY-NUMBER VARIATION
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/839113; http://hdl.handle.net/1854/LU-839113; http://dx.doi.org/10.1136/jmg.2008.063412; https://biblio.ugent.be/publication/839113/file/6825128
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20Academic Journal
المؤلفون: Lango Allen H, Rae W, Greene D, Staples E, Zhang Z, Rivers E, Penkett CJ, Stephens J, Deevi SVV, Thomas MJ, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Gilmour KC, Seneviratne SL, Sansom DM, Lynch AG, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Cooper N, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Abbs S, Adhya Z, Adlard J, Afzal M, Ahmed I, Ahmed M, Ahmed S, Aitman TJ, Alachkar H, Alamelu J, Alikhan R, Allen CE, Allen L, Allsup DJ, Alvi A, Ambegaonkar G, Anantharachagan A, Ancliff P, Anderson J, Antrobus R, Armstrong R, Arno G, Arumugakani G, Arya R, Ashford S, Astle WJ, Attwood A, Austin S, Aydinok Y, Ayub W, Babbs C, Bacchelli C, Baglin T, Bakchoul T, Bariana TK, Barratt J, Barwell J, Baski J, Bates RW, Batista J, Baxendale HE, Baynam G, Bennett DL, Bethune C, Bhatnagar N, Bibi S, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Bleda M, Blesneac I, Boardman B, Boddana P, Bogaard HJ, Booth C, Boyce S, Bradley JR, Brady A, Breen G, Brennan P, Brewer C, Briley A, Brown R, Browning MJ, Brownlie M, Bryson CJ, Buchan RJ, Buck J, Bueser T, Diz CB, Burns SO, Burren OS, Calleja P, Carmichael J, Carr-White G, Carss KJ, Casey R, Chalmers E, Chambers J, Chan MMY, Chan MV, Cheng F, Chinn IK, Chinnery PF, Chitre M, Chong S, Christian MT, Church C, Clement EM, Brod NC, Clifford H, Clowes VE, Coghlan G, Colby E, Cole TRP, Collins JH, Collins PW, Condliffe R, Cook HT, Cook S, Cookson V, Corris PA, Creaser-Myers A, Crisp-Hihn A, Curry NS, Da Costa R, Danesino C, Daniels MJ, Darby D, Daugherty LC, Davies EG, Davies S, Davis J, de Bree GJ, Deacock S, Deegan PB, Dempster J, Dent T, Deshpande C, Devlin LA, Dewhurst EF, Dixit AK, Dixon PH, Doffinger R, Dolling H, Dormand N, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edwards KE, Egner W, Ekani MN, El-Shanawany T, Elkhalifa S, Elston T, Emmerson I, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Farmery JHR, Favier R, Firth HV, Fitzpatrick MM, Fletcher D, Flinter FA, Fox JC, Frary AJ, French CE, Freson K, Frontini M, Furie B, Gale DP, Gall HJ, Gardham A, Gaspar HB, Gattens M, Ghali N, Ghataorhe PK, Ghio S, Ghofrani H-A, Ghurye R, Gibbs JSR, Gilbert RD, Girerd B, Girling JC, Gissen P, Gleadall NS, Gordins P, Gorman KM, Gosal D, Graf S, Grassi L, Greenhalgh AJ, Greenhalgh L, Greinacher A, Gresele P, Griffiths PG, Griffiths S, Grigoriadou S, Grozeva D, Hackett SJ, Hadden RDM, Hadinnapola C, Hague R, Hague WM, Haimel M, Hall M, Halmagyi C, Hammerton T, Hanson HL, Harkness K, Harper AR, Harper L, Harris C, Harrison C, Hart D, Hassan A, Hayman G, Heemskerk JWM, Hegde S, Henderson A, Henderson RH, Hensiek A, Henskens YMC, Herwadkar A, Hodgson J, Hoffman J, Holden S, Holder M, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes S, Huis in 't Veld AE, Humbert M, Hurles ME, Hurst JA, Irvine V, Izatt L, James R, Jeevaratnam P, Johnson M, Johnson SA, Jolley JD, Jones B, Jones J, Josifova D, Jurkute N, Karim YM, Karoshi MA, Kasanicki MA, Kazkaz H, Kazmi R, Keeling D, Kelleher P, Kelly AM, Kempster C, Kennedy F, Kiani S, Kiely DG, Kingston N, Kinsey S, Klein N, Klima R, Knox E, Kostadima MA, Kovacs G, Koziell AB, Kreuzhuber R, Krishnakumar D, Kuijpers TW, Kumar A, Kurian MA, Laffan J, Laffan MA, Lalloo F, Lambert MP, Lawman SHA, Lawrie A, Layton DM, Lear SE, Lees MM, Lentaigne C, Levine AP, Lewington AJP, Li W, Liesner R, Liu B, Longhurst H, Lorenzo LE, Louka E, Hadeler SL, Lyons PA, Macdougall M, Machado RD, MacKenzie Ross RV, Mackillop LH, MacLaren R, Madan B, Magee L, Mahdi-Rogers M, Maher ER, Maimaris J, Makris M, Mangles S, Manson A, Manzur A, Mapeta R, Marchbank KJ, Mark PB, Marks S, Markus HS, Marschall H-U, Marshall A, Martin JM, Masati L, Mathias M, Matser V, Matthews EL, Maw A, Maxwell H, McAlinden P, McCarthy MI, McDermott EM, McGowan SJ, McJannet C, McKinney H, Meacham S, Mead AJ, Castello IM, Meehan S, Megy K, Mehta S, Mercer CL, Michaelides M, Michell AC, Milford D, Millar CM, Millar H, Mistry A, Moenen F, Moledina S, Montani D, Moore AT, Moore J, Morrell NW, Morrisson V, Mozere M, Muir KW, Mumford AD, Murng SHK, Nasir I, Nejentsev S, Newnham M, Ng J, Ngoh A, Noorani S, Noori M, Nurden P, O'Sullivan JM, Obaji S, Okoli S, Oksenhendler E, Olschewski A, Olschewski H, Ong ACM, Ong KR, Oram H, Ormondroyd E, Othman S, Ouwehand WH, Pantazis A, Papadia S, Papandreou A, Park S-M, Parker APJ, Parry D, Parsons G, Pasi KJ, Paterson J, Payne JH, Peacock AJ, Peerlinck K, Pepke-Zaba J, Perry D, Petersen R, Piechowski-Jozwiak B, Pinto F, Polwarth GJ, Ponsford MJ, Prasad S, Prokopenko I, Psaila B, Pyle A, Qasim W, Quinn E, Quinti I, Raina S, Ranganathan L, Rankin J, Rankin S, Rao A, Raymond FL, Rayner-Matthews PJ, Rehnstrom K, Reid E, Reilly MM, Renton T, Revel-Vilk S, Rhodes CJ, Rice ASC, Richards EE, Richards M, Richardson S, Richter A, Robert L, Roberts I, Rondina MT, Rosser E, Rothwell P, Roughley C, Roy NB, Rue-Albrecht K, Sadeghi-Alavijeh O, Saleem MA, Salmon RM, Samani NJ, Samarghitean C, Sambrook JG, Sanchis-Juan A, Sandford R, Santra S, Sargur RB, Satchell SC, Savic S, Scelsi L, Schotte G, Schulman S, Schulze H, Scott R, Scully M, Searle C, Seeger W, Sewell WAC, Seyres D, Shackley F, Shamardina O, Shapiro SE, Sharma P, Shehata HA, Shipley D, Shtoyerman R, Sibson K, Side L, Simeoni I, Simpson M, Sims MC, Sinha MD, Sivapalaratnam S, Skytte A-B, Smith KGC, Snape K, Sneddon L, Sohal A, Soubrier F, Southgate L, Southwood M, Splitt M, Staines S, Stark H, Stauss H, Steele CL, Stein D, Stein PE, Stock S, Stubbs MJ, Suntharalingam J, Swietlik EM, Symington E, Tait RC, Talks K, Tan RYY, Taylor GB, Thachil J, Thaventhiran JED, Themistocleous AC, Thomas DC, Thomas E, Thomas P, Thompson DA, Thomson K, Thrasher AJ, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tool ATJ, Toshner MR, Traylor M, Treacy CM, Treadaway P, Trembath RC, Trippier S, Tuna S, Turek W, Turro E, Upton PD, Urniaz R, Vale T, Van Geet C, van Zuydam N, Vandersteen AM, Vazquez-Lopez M, Veltman MWM, Vogt J, von Ziegenweidt J, Noordegraaf AV, Vora A, Vries MJA, Wakeling EL, Walker N, Walker SM, Walsh R, Wanjiku I, Ware JS, Warner TQ, Wassmer E, Watkins H, Watson HG, Watt C, Waugh D, Webb N, Webster AR, Wei W, Welch A, Welch SB, Werring D, Wessels J, Westbury SK, Westwood J-PW, Wharton J, Whitehorn D, Whitworth J, Wilkins MR, Willcocks L, Williams DJ, Williamson C, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Workman S, Wort SJ, Yates K, Yeatman N, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E
المصدر: Nature, 2020
Relation: https://eprints.ncl.ac.uk/268264
الاتاحة: https://eprints.ncl.ac.uk/268264
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