학술논문
'학술논문'
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1~10
Academic Journal
Kim Elsink; Manon M. H. Huibers; Iris H. I. M. Hollink; Annet Simons; Evelien Zonneveld-Huijssoon; Lars T. van der Veken; Helen L. Leavis; Stefanie S. V. Henriet; Marcel van Deuren; Frank L. van de Veerdonk; Judith Potjewijd; Dagmar Berghuis; Virgil A. S. H. Dalm; Clementien L. Vermont; Annick A. J. M. van de Ven; Annechien J. A. Lambeck; Kristin M. Abbott; P. Martin van Hagen; Godelieve J. de Bree; Taco W. Kuijpers; Geert W. J. Frederix; Mariëlle E. van Gijn; Joris M. van Montfrans; the Genetics First for Primary Immunodeficiency Disorders Consortium; Aerde van, KJ; Altenburg, J; Armbrust W; Barendregt, BH; Berg van den, JM; Bredius, RGM; Buddingh, EP; Burg van der, M; Ellerbroek, PM; Ernst, RF; Fraaij, PLA; Hermans, M; Hoischen, A; Hout van der, AH; Jansen, MHA; Jolink, H; Jonkers, RE; Laar van, JAM; Leeuw de, K; Legger, GE; Leijten, EFA; Limper, M; Lindemans, CA; Oever ten, J; Pieterse, M; Rombach, SM; Rossum van, AMC; Rutgers, A; Santen, GWE; Schölvinck, EH; Simon, A; Stol, K; Vervenne RML
Frontiers in Immunology, Vol 12 (2021)
Academic Journal
Wang, TY; Hoekzema, K; Vecchio, D; Wu, HD; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Perez-Jurado, LA; Kvarnung, M; Sleyp, Y; Earl, RK; Rosenfeld, JA; Geisheker, MR; Han, L; Du, B; Barnett, C; Thompson, E; Shaw, M; Carroll, R; Friend, K; Catford, R; Palmer, EE; Zou, XB; Ou, JJ; Li, HH; Guo, H; Gerdts, J; Avola, E; Calabrese, G; Elia, M; Greco, D; Lindstrand, A; Nordgren, A; Anderlid, BM; Vandeweyer, G; Van Dijck, A; Van der Aa, N; McKenna, B; Hancarova, M; Bendova, S; Havlovicova, M; Malerba, G; Bernardina, BD; Muglia, P; van Haeringen, A; Hoffer, MJV; Franke, B; Cappuccio, G; Delatycki, M; Lockhart, PJ; Manning, MA; Liu, PF; Scheffer, IE; Brunetti-Pierri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedlacek, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, RF; Nordenskjold, M; Romano, C; Peeters, H; Bernier, RA; Gecz, J; Xia, K; Eichler, EE
Nature communications. 11(1):5398
Academic Journal
Wang, T; Hoekzema, K; Vecchio, D; Wu, HD; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Perez-Jurado, LA; Kvarnung, M; Sleyp, Y; Earl, RK; Rosenfeld, JA; Geisheker, MR; Han, L; Du, B; Barnett, C; Thompson, E; Shaw, M; Carroll, R; Friend, K; Catford, R; Palmer, EE; Zou, XB; Ou, JJ; Li, HH; Guo, H; Gerdts, J; Avola, E; Calabrese, G; Elia, M; Greco, D; Lindstrand, A; Nordgren, A; Anderlid, BM; Vandeweyer, G; Van Dijck, A; Van der Aa, N; McKenna, B; Hancarova, M; Bendova, S; Havlovicova, M; Malerba, G; Dalla Bernardina, B; Muglia, P; van Haeringen, A; Hoffer, MJV; Franke, B; Cappuccio, G; Delatycki, M; Lockhart, PJ; Manning, MA; Liu, PF; Scheffer, IE; Brunetti-Pierri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedlacek, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, RF; Nordenskjold, M; Romano, C; Peeters, H; Bernier, RA; Gecz, J; Xia, K; Eichler, EE
Nature communications. 11(1):4932
Electronic Resource
Levy, MA; McConkey, H; Kerkhof, J; Barat-Houari, M; Bargiacchi, S; Biamino, E; Bralo, MP; Cappuccio, G; Ciolfi, A; Clarke, A; DuPont, BR; Elting, MW; Faivre, L; Fee, T; Fletcher, RS; Cherik, F; Foroutan, A; Friez, MJ; Gervasini, C; Haghshenas, S; Hilton, BA; Jenkins, Z; Kaur, S; Lewis, S; Louie, RJ; Maitz, S; Milani, D; Morgan, AT; Oegema, R; Østergaard, E; Pallares, NR; Piccione, M; Pizzi, S; Plomp, AS; Poulton, C; Reilly, J; Relator, R; Rius, R; Robertson, S; Rooney, K; Rousseau, J; Santen, GWE; Santos-Simarro, F; Schijns, J; Squeo, GM; St John, M; Thauvin-Robinet, C; Traficante, G; van der Sluijs, PJ; Vergano, SA; Vos, N; Walden, KK; Azmanov, D; Balci, T; Banka, S; Gecz, J; Henneman, P; Lee, JA; Mannens, MMAM; Roscioli, T; Siu, V; Amor, DJ; Baynam, G; Bend, EG; Boycott, K; Brunetti-Pierri, N; Campeau, PM; Christodoulou, J; Dyment, D; Esber, N; Fahrner, JA; Fleming, MD; Genevieve, D; Kerrnohan, KD; McNeill, A; Menke, LA; Merla, G; Prontera, P; Rockman-Greenberg, C; Schwartz, C; Skinner, SA; Stevenson, RE; Vitobello, A; Tartaglia, M; Alders, M; Tedder, ML; Sadikovic, B
Academic Journal
Geisheker, MR; Heymann, G; Wang, TY; Coe, BP; Turner, TN; Stessman, HAF; Hoekzema, K; Kvarnung, M; Shaw, M; Friend, K; Liebelt, J; Barnett, C; Thompson, EM; Haan, E; Guo, H; Anderlid, BM; Nordgren, A; Lindstrand, A; Vandeweyer, G; Alberti, A; Avola, E; Vinci, M; Giusto, S; Pramparo, T; Pierce, K; Nalabolu, S; Michaelson, JJ; Sedlacek, Z; Santen, GWE; Peeters, H; Hakonarson, H; Courchesne, E; Romano, C; Kooy, RF; Bernier, RA; Nordenskjold, M; Gecz, J; Xia, K; Zweifel, LS; Eichler, EE
Nature neuroscience. 20(8):1043
Electronic Resource
Wang, T; Hoekzema, K; Vecchio, D; Wu, H; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Perez-Jurado, LA; Kvarnung, M; Sleyp, Y; Earl, RK; Rosenfeld, JA; Geisheker, MR; Han, L; Du, B; Barnett, C; Thompson, E; Shaw, M; Carroll, R; Friend, K; Catford, R; Palmer, EE; Zou, X; Ou, J; Li, H; Guo, H; Gerdts, J; Avola, E; Calabrese, G; Elia, M; Greco, D; Lindstrand, A; Nordgren, A; Anderlid, BM; Vandeweyer, G; Van Dijck, A; Van der Aa, N; McKenna, B; Hancarova, M; Bendova, S; Havlovicova, M; Malerba, G; Bernardina, BD; Muglia, P; van Haeringen, A; Hoffer, MJV; Franke, B; Cappuccio, G; Delatycki, M; Lockhart, PJ; Manning, MA; Liu, P; Scheffer, IE; Brunetti-Pierri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedláček, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, RF; Acampado, J; Ace, AJ; Amatya, A; Astrovskaya, I; Bashar, A; Brooks, E; Butler, ME; Cartner, LA; Chin, W; Chung, WK; Daniels, AM; Feliciano, P; Fleisch, C; Ganesan, S; Jensen, W; Lash, AE; Marini, R; Myers, VJ; O’Connor, E; Rigby, C; Robertson, BE; Shah, N; Shah, S; Singer, E; Snyder, LAG; Stephens, AN; Tjernagel, J; Vernoia, BM; Volfovsky, N; White, LC; Hsieh, A; Shen, Y; Zhou, X; Turner, TN; Bahl, E; Thomas, TR
Electronic Resource
Wang, T; Hoekzema, K; Vecchio, D; Wu, H; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Perez-Jurado, LA; Kvarnung, M; Sleyp, Y; Earl, RK; Rosenfeld, JA; Geisheker, MR; Han, L; Du, B; Barnett, C; Thompson, E; Shaw, M; Carroll, R; Friend, K; Catford, R; Palmer, EE; Zou, X; Ou, J; Li, H; Guo, H; Gerdts, J; Avola, E; Calabrese, G; Elia, M; Greco, D; Lindstrand, A; Nordgren, A; Anderlid, B-M; Vandeweyer, G; Van Dijck, A; Van der Aa, N; McKenna, B; Hancarova, M; Bendova, S; Havlovicova, M; Malerba, G; Bernardina, BD; Muglia, P; van Haeringen, A; Hoffer, MJV; Franke, B; Cappuccio, G; Delatycki, M; Lockhart, PJ; Manning, MA; Liu, P; Scheffer, IE; Brunetti-Pierri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedlacek, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, RF; Nordenskjold, M; Romano, C; Peeters, H; Bernier, RA; Gecz, J; Xia, K; Eichler, EE
Electronic Resource
van der Sluijs, PJ; Jansen, S (Silke); Vergano, SA; Adachi-Fukuda, M; Alanay, Y; AlKindy, A; Kersseboom, Rogier; Verheijen - Mancini, Grazia; Clayton-Smith, J; Santen, GWE
van der Sluijs , PJ , Jansen , S , Vergano , SA , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Kersseboom , R , Verheijen - Mancini , G , Clayton-Smith , J & Santen , GWE 2019 , ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome ' , Genetics in Medicine , vol. 21 , no. 6 , pp. 1295-1307 .
Electronic Resource
Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Deciphering Developmental Disorders Study; Baralle, D; Blair, EM; Engels, H; Lüdecke, H-J; Eason, J; Santen, GWE; Clayton-Smith, J; Chandler, K; Tatton-Brown, K; Payne, K; Helbig, K; Radtke, K; Nugent, KM; Cremer, K; Strom, TM; Bird, LM; Sinnema, M; Bitner-Glindzicz, M; van Dooren, MF; Alders, M; Koopmans, M; Brick, L; Kozenko, M; Harline, ML; Klaassens, M; Steinraths, M; Cooper, NS; Edery, P; Yap, P; Terhal, PA; van der Spek, PJ; Lakeman, P; Taylor, RL; Littlejohn, RO; Pfundt, R; Mercimek-Andrews, S; Stegmann, APA; Kant, SG; McLean, S; Joss, S; Swagemakers, SMA; Douzgou, S; Wall, SA; Küry, S; Calpena, E; Koelling, N; McGowan, SJ; Twigg, SRF; Mathijssen, IMJ; Nellaker, C; Brunner, HG; Wilkie, AOM
Electronic Resource
Reijnders, M R F; Miller, KA; Alvi, M; Goos, Jacqueline; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Baralle, D; Blair, EM; Engels, H; Ludecke, HJ; Eason, J; Santen, GWE; Clayton-Smith, J; Chandler, K; Tatton-Brown, K; Payne, K; Helbig, K; Radtke, K; Nugent, KM; Cremer, K; Strom, TM; Bird, LM; Sinnema, M; Bitner-Glindzicz, M; van Dooren, Marieke; Alders, M; Koopmans, M; Brick, L; Kozenko, M; Harline, ML; Klaassens, M; Steinraths, M; Cooper, NS; Edery, P; Yap, P; Terhal, PA; van der Spek, Peter; Lakeman, P; Taylor, RL; Littlejohn, RO; Pfundt, R; Mercimek-Andrews, S; Stegmann, APA; Kant, SG; McLean, S; Joss, S; Swagemakers, Sigrid; Douzgou, S; Wall, SA; Kury, S; Calpena, E; Koelling, N; McGowan, SJ; Twigg, SRF; Mathijssen, Irene; Nellaker, C; Brunner, HG; Wilkie, AOM
Reijnders , M R F , Miller , KA , Alvi , M , Goos , J , Lees , MM , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , BBA , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , CAL , Wieczorek , D , Baralle , D , Blair , EM , Engels , H , Ludecke , HJ , Eason , J , Santen , GWE , Clayton-Smith , J , Chandler , K , Tatton-Brown , K , Payne , K , Helbig , K , Radtke , K , Nugent , KM , Cremer , K , Strom , TM , Bird , LM , Sinnema , M , Bitner-Glindzicz , M , van Dooren , M , Alders , M , Koopmans , M , Brick , L , Kozenko , M , Harline , ML , Klaassens , M , Steinraths , M , Cooper , NS , Edery , P , Yap , P , Terhal , PA , van der Spek , P , Lakeman , P , Taylor , RL , Littlejohn , RO , Pfundt , R , Mercimek-Andrews , S , Stegmann , APA , Kant , SG , McLean , S , Joss , S , Swagemakers , S , Douzgou , S , Wall , SA , Kury , S , Calpena , E , Koelling , N , McGowan , SJ , Twigg , SRF , Mathijssen , I , Nellaker , C , Brunner , HG & Wilkie , AOM 2018 , ' De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder ' , American Journal of Human Genetics , vol. 102 , no. 6 , pp. 1195-1203 .
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