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41
المؤلفون: 't Hoen PA, Friedlxe4nder MR, Almlxf6f J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brxe4nnvall M, GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigxf3 R, Estivill X, Syvxe4nen AC, Dermitzakis ET, Lappalainen T, 't Hoen PA, Friedlxe4nder MR, Almlxf6f J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brxe4nnvall M, GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigxf3 R, Estivill X, Syvxe4nen AC, Dermitzakis ET, Lappalainen T
المصدر: Nature Biotechnology.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=erc_________::70dea3d79724cf019f72d7e47d6c3d6cTest
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42دورية أكاديمية
المؤلفون: Santen GW, Aten E, Vulto van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ, Coffin Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton Smith J, de Vries BB, Hennekam RC, van Belzen MJ, Almureikhi M, Baban A, Barbosa M, Ben Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM Jr, Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska Walasek M, Kramer N, Maas SM, Maciel P, Mancini GM, Maystadt I, McKee S, Milunsky JM, Nampoothiri S, Newbury Ecob R, Nikkel SM, Parker MJ, Pérez Jurado LA, Robertson SP, Rooryck C, Shears D, Singh A, Smigiel R, Soares G, Splitt M, Stewart H, Sweeney E, Tassabehji M, Tuysuz B, van Eerde AM, Vincent Delorme C, Wilson LC, Yesil G., CIRILLO, Margherita
المساهمون: Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ, Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ, Almureikhi M, Baban A, Barbosa M, Ben-Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM Jr, Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska-Walasek M, Kramer N, Maas SM, Maciel P, Mancini GM, Maystadt I, McKee S, Milunsky JM, Nampoothiri S, Newbury-Ecob R, Nikkel SM, Parker MJ, Pérez-Jurado LA, Robertson SP, Rooryck C, Shears D, Silengo M, Singh A, Smigiel R, Soares G, Splitt M, Stewart H, Sweeney E, Tassabehji M, Tuysuz B, van Eerde AM, Vincent-Delorme C, Wilson LC, Yesil G.
مصطلحات موضوعية: ARID1A, ARID1B, BAF, CSS, Coffin-Siri, NBS, Nicolaides-Baraitser, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SWI/SNF, genotype-phenotype, mosaicism
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23929686; info:eu-repo/semantics/altIdentifier/wos/WOS:000325426900011; volume:34; issue:11; firstpage:1519; lastpage:1528; numberofpages:10; journal:HUMAN MUTATION; http://hdl.handle.net/2318/140451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885422201
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43دورية أكاديمية
المؤلفون: Savige, J, Dalgleish, R, Cotton, RGH, den Dunnen, JT, Macrae, F, Povey, S
العلاقة: pii: 10.1007/s00467-014-2994-1; Savige, J., Dalgleish, R., Cotton, R. G. H., den Dunnen, J. T., Macrae, F. & Povey, S. (2015). The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. PEDIATRIC NEPHROLOGY, 30 (11), pp.1893-1901. https://doi.org/10.1007/s00467-014-2994-1Test.; http://hdl.handle.net/11343/219265Test
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44دورية أكاديمية
المؤلفون: Van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S, Postmus, I, Verweij, N, Van Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A, Joshi, PK, Peloso, GM, Deelen, P, Van Dijk, F, Willemsen, G, De Geus, EJ, Milaneschi, Y, Penninx, BWJH, Francioli, LC, Menelaou, A, Pulit, SL, Rivadeneira, F, Hofman, A, Oostra, BA, Franco, OH, Leach, IM, Beekman, M, De Craen, AJM, Uh, HW, Trochet, H, Hocking, LJ, Porteous, DJ, Sattar, N, Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter, JI, Mychaleckyj, JC, Campbell, H, Duan, Q, Lange, LA, Wilson, JF, Hayward, C, Polasek, O, Vitart, V, Rudan, I, Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Cupples, LA, Jukema, JW, Van Der Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, Van Ommen, GJB, De Bakker, PIW, Eline Slagboom, P, Boomsma, DI, Wijmenga, C, Van Duijn, CM, Neerincx, PBT, Elbers, CC, Palamara, PF, Peer, I, Abdellaoui, A, Kloosterman, WP, Van Oven, M, Vermaat, M, Li, M, Laros, JFJ, Stoneking, M, De Knijff, P, Kayser, M, Veldink, JH, Van Den Berg, LH, Byelas, H, Den Dunnen, JT, Dijkstra, M, Amin, N, Van Der Velde, KJ, Van Setten, J
المصدر: Van Leeuwen, EM; Karssen, LC; Deelen, J; Isaacs, A; Medina-Gomez, C; Mbarek, H; et al.(2015). Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nature Communications, 6. doi:10.1038/ncomms7065. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0pf7030wTest
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45دورية أكاديمية
المؤلفون: Kalman, LV, Agúndez, JAG, Appell, M Lindqvist, Black, JL, Bell, GC, Boukouvala, S, Bruckner, C, Bruford, E, Caudle, K, Coulthard, SA, Daly, AK, Tredici, AL Del, den Dunnen, JT, Drozda, K, Everts, RE, Flockhart, D, Freimuth, RR, Gaedigk, A, Hachad, H, Hartshorne, T, Ingelman‐Sundberg, M, Klein, TE, Lauschke, VM, Maglott, DR, McLeod, HL, McMillin, GA, Meyer, UA, Müller, DJ, Nickerson, DA, Oetting, WS, Pacanowski, M, Pratt, VM, Relling, MV, Roberts, A, Rubinstein, WS, Sangkuhl, K, Schwab, M, Scott, SA, Sim, SC, Thirumaran, RK, Toji, LH, Tyndale, RF, van Schaik, RHN, Whirl‐Carrillo, M, Yeo, KTJ, Zanger, UM
المصدر: Clinical Pharmacology & Therapeutics ; volume 99, issue 2, page 172-185 ; ISSN 0009-9236 1532-6535
الإتاحة: https://doi.org/10.1002/cpt.280Test
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46دورية أكاديمية
المؤلفون: SPITALI, Pietro, Heemskerk H, Vossen RH, FERLINI, Alessandra, den Dunnen JT, 't Hoen PA, Aartsma Rus A.
المساهمون: Spitali, Pietro, Heemskerk, H, Vossen, Rh, Ferlini, Alessandra, den Dunnen, Jt, 't Hoen, Pa, Aartsma Rus, A.
مصطلحات موضوعية: antisense oligonucleotides, digital array, duchenne muscular dystrophy, exon skipping, transcript quantification
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000281467800012; volume:90; issue:9; firstpage:1396; lastpage:1402; numberofpages:7; journal:LABORATORY INVESTIGATION; http://hdl.handle.net/11392/1401325Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77956237927; https://www.nature.com/articles/labinvest201098Test#
الإتاحة: https://doi.org/10.1038/labinvest.2010.98Test
http://hdl.handle.net/11392/1401325Test
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47دورية أكاديمية
المؤلفون: de Vree, PJP (Paula), de Wit, E (Emmie), Yilmaz, M, de Heijning, MV, Klous, PM, Verstegen, MJAM, Wan, Y, Teunissen, H, Krijger, PHL, Geeven, G, Eijk, PP, Sie, D, Ylstra, B, Hulsman, Lorette, van Dooren, Marieke, van Zutven, Laura, van den Ouweland, Ans, Verbeek, S (Sabine), van Dijk, KW, Cornelissen, M, Das, AT, Ben Berkhout, Sikkema-Raddatz, B, van den Berg, E, van der Vlies, P, Weening, D, Dunnen, JT, Matusiak, M, Lamkanfi, M, Ligtenberg, MJL, ter Brugge, PJ (Petra), Jonkers, J, Foekens, John, Martens, John, van der Luijt, R, van Amstel, HKP, van Min, M, Splinter, EC, de Laat, WL (Wouter)
المصدر: de Vree , PJP , de Wit , E , Yilmaz , M , de Heijning , MV , Klous , PM , Verstegen , MJAM , Wan , Y , Teunissen , H , Krijger , PHL , Geeven , G , Eijk , PP , Sie , D , Ylstra , B , Hulsman , L , van Dooren , M , van Zutven , L , van den Ouweland , A , Verbeek , S , van Dijk , KW , Cornelissen , M , Das , AT , Ben Berkhout , Sikkema-Raddatz , B , ....
الإتاحة: https://doi.org/10.1038/nbt.2959Test
https://pure.eur.nl/en/publications/836341ba-2605-4e02-b85b-46125892ae98Test -
48دورية أكاديمية
المؤلفون: Francioli, LC, Menelaou, A, Pulit, SL, Dijk, Femke, Palamara, PF, Elbers, CC, Neerincx, PBT, Ye, K, Guryev, V, Kloosterman, WP, Deelen, P, Abdellaoui, A, Leeuwen, Elisa, Oven, Mannis, Vermaat, M, Li, M, Laros, JFJ, Karssen, Lennart, Kanterakis, A, Amin, Najaf, Hottenga, JJ (Jouke Jan), Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Settenl, J, van Schaik, BDC, Bot, J, Nijman, IJ, Renkens, I, Marscha, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, van Enckevort, D, Mei, Hailang, Koval, Slavik, Moed, MTH, Van der Velde, KJ, Rivadeneira, Fernando, Estrada Gil, Karol, Medina-Gomez, C, Isaacs, Aaron, McCarroll, SA, Beekrnan, M, de Craen, AJM, Suchiman, HED, Hofman, Bert, Oostra, Ben, Uitterlinden, André, Willemsen, G, Plattee, M, Veldink, JH, van den Berg, LH, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Dunnen, JT, Stoneking, M, de Knijff, P, Kayser, Manfred, Li, QB, Li, YR, Du, YP, Chen, Ruoqing, Cao, H, Li, N (Nan), Cao, S, Wang, Johnny, Bovenberg, JA, Peer, I, Slagboom, PE (Eline), Duijn, Cornelia, Boomsma, DI, van Ommen, GJB, de Bakker, PIW, Swertz, MA, Wijmenga, C
المصدر: Francioli , LC , Menelaou , A , Pulit , SL , Dijk , F , Palamara , PF , Elbers , CC , Neerincx , PBT , Ye , K , Guryev , V , Kloosterman , WP , Deelen , P , Abdellaoui , A , Leeuwen , E , Oven , M , Vermaat , M , Li , M , Laros , JFJ , Karssen , L , Kanterakis , A , Amin , N , Hottenga , JJ , Lameijer , EW , Kattenberg , M , Dijkstra , M , Byelas , H ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC022601, name=EMC MGC-02-26-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A, name=EMC MM-01-39-09-A, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402, name=EMC NIHES-01-64-02
الإتاحة: https://doi.org/10.1038/ng.3021Test
https://pure.eur.nl/en/publications/62efe671-897c-4fcf-88aa-dae7d4b6d993Test
http://hdl.handle.net/1765/58974Test -
49دورية أكاديمية
المؤلفون: Leung, SY, Bernstein, I, Thompson, BA, Spurdle, AB, Plazzer, JP, Greenblatt, MS, Akagi, K, Al-Mulla, F, Bapat, B, Capellá, G, den Dunnen, JT, du Sart, D, Fabre, A, Farrell, MP, Farrington, SM, Frayling, IM, Frebourg, T, Goldgar, DE, Heinen, CD, Holinski-Feder, E, Kohonen-Corish, M, Robinson, KL, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, LJ, Royer-Pokora, B, Scott, RJ, Sijmons, R, Tavtigian, SV, Tops, CM, Weber, T, Wijnen, J, Woods, MO, Macrae, F, Genuardi, M, on behalf of, INSIGHT
العلاقة: Nature Genetics; Nature Genetics, 2014, v. 46 n. 2, p. 107–115; 107–115; 227453; WOS:000331208300006; http://hdl.handle.net/10722/193930Test; 46
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50دورية أكاديمية
المؤلفون: Schoenmakers, N, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W (Wilma), Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken - Koelega, Anita, del Blanco, DG, Rangasami, JJ, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Kant, SG, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GCJ, Pereira, AM, Dunnen, JT, Wade, MG, Breuning, MH, Hennekam, RC, Dattani, MT, Wit, JM, Bernard, DJ, Chatterjee, K
المصدر: Schoenmakers , N , Sun , Y , Bak , B , van Trotsenburg , ASP , Oostdijk , W , Voshol , P , Cambridge , E , White , JK , le Tissier , P , Gharavy , SNM , Martinez-Barbera , JP , Stokvis-Brantsma , WH , Vulsma , T , Kempers , MJ , Persani , L , Campi , I , Bonomi , M , Beck-Peccoz , P , Zhu , H , Davis , TME , Hokken - Koelega , A , del Blanco , DG , Rangasami , JJ , Ruivenkamp , ....
