학술논문
'학술논문'
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Academic Journal
Eyre, S; Bowes, J; Diogo, D; Lee, A; Barton, A; Martin, P; Zhernakova, A; Stahl, E; Viatte, S; McAllister, K; Amos, CI; Padyukov, L; Toes, REM; Huizinga, TWJ; Wijmenga, C; Trynka, G; Franke, L; Westra, HJ; Alfredsson, L; Hu, XL; Sandor, C; de Bakker, PIW; Davila, S; Khor, CC; Heng, KK; Andrews, R; Edkins, S; Hunt, SE; Langford, C; Symmons, D; Concannon, P; Onengut-Gumuscu, S; Rich, SS; Deloukas, P; Gonzalez-Gay, MA; Rodriguez-Rodriguez, L; Arlsetig, L; Martin, J; Rantapaa-Dahlqvist, S; Plenge, RM; Raychaudhuri, S; Klareskog, L; Gregersen, PK; Worthington, J
Nature genetics. 44(12):1336-1340
Electronic Resource
Kumar, V; Pouw, RB; Autio, M; Sagmeister, MG; Phua, ZY; Borghini, L; Wright, VJ; Hoggart, C; Pan, B; Tan, AKY; Binder, A; Brouwer, MC; Pinnock, E; De Groot, R; Hazelzet, J; Emonts, M; van der Flier, M; Reiter, K; Nothen, MM; Hoffmann, P; Schlapbach, LJ; Bellos, E; Anderson, S; Secka, F; Martinon-Torres, F; Salas, A; Fink, C; Carrol, ED; Pollard, AJ; Coin, LJ; Zenz, W; Wouters, D; Ang, LT; Hibberd, ML; Levin, M; Kuijpers, TW; Davila, S
Electronic Resource
Chan, SH; Bylstra, Y; Teo, JX; Kuan, JL; Bertin, N; Gonzalez-Porta, M; Hebrard, M; Tirado-Magallanes, R; Tan, JHJ; Jeyakani, J; Li, Z; Chai, JF; Chong, YS; Davila, S; Goh, LL; Lee, ES; Wong, E; Wong, TY; SG10K_Health Consortium; Prabhakar, S; Liu, J; Cheng, C-Y; Eisenhaber, B; Karnani, N; Leong, KP; Sim, X; Yeo, KK; Chambers, JC; Tai, E-S; Tan, P; Jamuar, SS; Ngeow, J; Lim, WK
Electronic Resource
Academic Journal
Aung, T; Ozaki, M; Lee, MC; Schlotzer-Schrehardt, U; Thorleifsson, G; Mizoguchi, T; Igo, RP; Haripriya, A; Williams, SE; Astakhov, YS; Orr, AC; Burdon, KP; Nakano, S; Mori, K; Abu-Amero, K; Hauser, M; Li, Z; Prakadeeswari, G; Bailey, JNC; Cherecheanu, AP; Kang, JH; Nelson, S; Hayashi, K; Manabe, S; Kazama, S; Zarnowski, T; Inoue, K; Irkec, M; Coca-Prados, M; Sugiyama, K; Jarvela, I; Schlottmann, P; Lerner, SF; Lamari, H; Nilgun, Y; Bikbov, M; Park, KH; Cha, SC; Yamashiro, K; Zenteno, JC; Jonas, JB; Kumar, RS; Perera, SA; Chan, ASY; Kobakhidze, N; George, R; Vijaya, L; Do, T; Edward, DP; Marcos, LD; Pakravan, M; Moghimi, S; Ideta, R; Bach-Holm, D; Kappelgaard, P; Wirostko, B; Thomas, S; Gaston, D; Bedard, K; Greer, WL; Yang, ZL; Chen, XY; Huang, LL; Sang, JH; Jia, HY; Jia, LY; Qiao, CY; Zhang, H; Liu, XY; Zhao, BW; Wang, YX; Xu, L; Leruez, S; Reynier, P; Chichua, G; Tabagari, S; Uebe, S; Zenkel, M; Berner, D; Mossbock, G; Weisschuh, N; Hoja, U; Welge-Luessen, UC; Mardin, C; Founti, P; Chatzikyriakidou, A; Pappas, T; Anastasopoulos, E; Lambropoulos, A; Ghosh, A; Shetty, R; Porporato, N; Saravanan, V; Venkatesh, R; Shivkumar, C; Kalpana, N; Sarangapani, S; Kanavi, MR; Beni, AN; Yazdani, S; Lashay, A; Naderifar, H; Khatibi, N; Fea, A; Lavia, C; Dallorto, L; Rolle, T; Frezzotti, P; Paoli, D; Salvi, E; Manunta, P; Mori, Y; Miyata, K; Higashide, T; Chihara, E; Ishiko, S; Yoshida, A; Yanagi, M; Kiuchi, Y; Ohashi, T; Sakurai, T; Sugimoto, T; Chuman, H; Aihara, M; Inatani, M; Miyake, M; Gotoh, N; Matsuda, F; Yoshimura, N; Ikeda, Y; Ueno, M; Sotozono, C; Jeoung, JW; Sagong, M; Ahn, J; Cruz-Aguilar, M; Ezzouhairi, SM; Rafei, A; Chong, YF; Ng, XY; Goh, SR; Chen, YM; Yong, VHK; Khan, MI; Olawoye, OO; Ashaye, AO; Ugbede, I; Onakoya, A; Kizor-Akaraiwe, N; Teekhasaenee, C; Suwan, Y; Supakontanasan, W; Okeke, S; Uche, NJ; Asimadu, I; Ayub, H; Akhtar, F; Kosior-Jarecka, E; Lukasik, U; Lischinsky, I; Castro, V; Grossmann, RP; Megevand, GS; Roy, S; Dervan, E; Silke, E; Rao, A; Sahay, P; Fornero, P; Cuello, O; Sivori, D; Zompa, T; Mills, RA; Souzeau, E; Mitchell, P; Wang, JJ; Hewitt, AW; Coote, M; Crowston, JG; Astakhov, SY; Akopov, EL; Emelyanov, A; Vysochinskaya, V; Kazakbaeva, G; Fayzrakhmanov, R; Al-Obeidan, SA; Owaidhah, O; Aljasim, LA; Chowbay, B; Foo, JN; Soh, RQ; Sim, KS; Xie, ZC; Cheong, AWO; Mok, SQ; Soo, HM; Peh, SQ; Heng, KK; Husain, R; Ho, SL; Hillmer, AM; Cheng, CY; Escudero-Dominguez, FA; Gonzalez-Sarmiento, R; Martinon-Torres, F; Salas, A; Pathanapitoon, K; Hansapinyo, L; Wanichwecharugruang, B; Kitnarong, N; Sakuntabhai, A; Nguyn, HX; Nguyn, GTT; Nguyn, TV; Zenz, W; Binder, A; Klobassa, DS; Hibberd, ML; Davila, S; Herms, S; Nothen, MM; Moebus, S; Rautenbach, RM; Ziskind, A; Carmichael, TR; Ramsay, M; Alvarez, L; Garcia, M; Gonzalez-Iglesias, H; Rodriguez-Calvo, PP; Cueto, LFV; Oguz, C; Tamcelik, N; Atalay, E; Batu, B; Aktas, D; Kasim, B; Wilson, MR; Coleman, AL; Liu, YT; Challa, P; Herndon, L; Kuchtey, RW; Kuchtey, J; Curtin, K; Chaya, CJ; Crandall, A; Zangwill, LM; Wong, TY; Nakano, M; Kinoshita, S; den Hollander, AI; Vesti, E; Fingert, JH; Lee, RK; Sit, AJ; Shingleton, BJ; Wang, NL; Cusi, D; Qamar, R; Kraft, P; Pericak-Vance, MA; Raychaudhuri, S; Heegaard, S; Kivela, T; Reis, A; Kruse, FE; Weinreb, RN; Pasquale, LR; Haines, JL; Thorsteinsdottir, U; Jonasson, F; Allingham, RR; Milea, D; Ritch, R; Kubota, T; Tashiro, K; Vithana, EN; Micheal, S; Topouzis, F; Craig, JE; Dubina, M; Sundaresan, P; Stefansson, K; Wiggs, JL; Pasutto, F; Khor, CC
Nature genetics. 49(7):993
Academic Journal
Jiang, X; Kallberg, H; Chen, ZM; Arlestig, L; Rantapaa-Dahlqvist, S; Davila, S; Klareskog, L; Padyukov, L; Alfredsson, L
Rheumatology (Oxford, England). 55(1):149-155
Electronic Resource
Borghini, L; Png, E; Binder, A; Wright, VJ; Pinnock, E; de Groot, R; Hazelzet, J; Emonts, M; Van der Flier, M; Schlapbach, LJ; Anderson, S; Secka, F; Salas, A; Fink, C; Carrol, ED; Pollard, AJ; Coin, LJ; Kuijpers, TW; Martinon-Torres, F; Zenz, W; Levin, M; Hibberd, ML; Davila, S; Gormley, S; Hamilton, S; Herberg, J; Hourmat, B; Hoggart, C; Kaforou, M; Sancho-Shimizu, V; Abdulla, A; Agapow, P; Bartlett, M; Bellos, E; Eleftherohorinou, H; Galassini, R; Inwald, D; Mashbat, M; Menikou, S; Mustafa, S; Nadel, S; Rahman, R; Thakker, C; Bokhandi, S; Power, S; Barham, H; Pathan, N; Ridout, J; White, D; Thurston, S; Faust, S; Patel, S; McCorkell, J; Davies, P; Cratev, L; Navarra, H; Carter, S; Ramaiah, R; Patel, R; Tuffrey, C; Gribbin, A; McCready, S; Peters, M; Hardy, K; Standing, F; O'Neill, L; Abelake, E; Deep, A; Nsirim, E; Willis, L; Young, Z; Royad, C; White, S; Fortune, PM; Hudnott, P; Alvez Gonzalez, F; Barral-Arca, R; Cebey-Lopez, M; Jose Curras-Tuala, M; Garcia, N; Garcia Vicente, L; Gomez-Carballa, A; Gomez Rial, J; Grela Beiroa, A; Justicia Grande, A; Leborans Iglesias, P; Martinez Santos, AE; Martinon-Torres, N; Martinon Sanchez, JM; Mosquera Perez, B; Obando Pacheco, P; Pardo-Seco, J; Pischedda, S; Rivero Calle, I; Rodriguez-Tenreiro, C; Redondo-Collazo, L; Seren Fernandez, S; Porto Silva, MDS; Vega, A; Beatriz Reyes, S; Leon Leon, MC; Navarro Mingorance, A; Gabaldo Barrios, X; Onate Vergara, E; Concha Torre, A; Vivanco, A; Fernandez, R; Gimenez Sanchez, F; Sanchez Forte, M; Rojo, P; Ruiz Contreras, J; Palacios, A; Navarro, M; Alvarez Alvarez, C; Jose Lozano, M; Carreras, E; Brio Sanagustin, S; Neth, O; Martinez Padilla, MDC; Prieto Tato, LM; Guillen, S; Fernandez Silveira, L; Moreno, D; van Furth, AMT; van der Flier, M; Boeddha, NP; Driessen, GJA; Pajkrt, D; Sanders, EAM; van de Beek, D; van der Ende, A; Philipsen, HLA; Adeel, AOA; Breukels, MA; Brinkman, DMC; de Korte, CCMM; de Vries, E; de Waal, WJ; Dekkers, R; Dings-Lammertink, A; Doedens, RA; Donker, AE; Dousma, M; Faber, TE; Gerrits, GPJM; Gerver, JAM; Heidema, J; Homan-van der Veen, J; Jacobs, MAM; Jansen, NJG; Kawczynski, P; Klucovska, K; Kneyber, MCJ; Koopman-Keemink, Y; Langenhorst, VJ; Leusink, J; Loza, BF; Merth, IT; Miedema, CJ; Neeleman, C; Noordzij, JG; Obihara, CC; van Overbeek-van Gils, ALT; Poortman, GH; Potgieter, ST; Potjewijd, J; Rosias, PPR; Sprong, T; ten Tussher, GW; Thio, BJ; Tramper-Stranders, GA; van Deuren, M; van der Meer, H; van Kuppevelt, AJM; van Wermeskerken, AM; Verwijs, WA; Wolfs, TFW; Agyeman, P; Aebi, C; Berger, C; Giannoni, E; Stocker, M; Posfay-Barbe, KM; Heininger, U; Bernhard-Stirnemann, S; Niederer-Loher, A; Kahlert, C; Hasters, P; Relly, C; Baer, W; Paulus, S; Frederick, H; Jennings, R; Johnston, J; Kenwright, R; Agbeko, R; Bojang, K; Sarr, I; Kebbeh, N; Sey, G; Saidykhan, M; Cole, F; Thomas, G; Antonio, M; Walcher, W; Geishofer, G; Klobassa, D; Martin, M; Pfurtscheller, K; Reiter, K; Roedl, S; Zobel, G; Zoehrer, B; Toepke, B; Fucik, P; Gabriel, M; Penzien, JM; Diab, G; Miething, R; Deeg, KH; Hammer, J; Varnholt, V; Schmidt, A; Bindl, L; Sillaber, U; Huemer, C; Meier, P; Simic-Schleicher, G; Markart, M; Pfau, E; Broede, H; Ausserer, B; Kalhoff, H; Arpe, V; Schweitzer-Krantz, S; Kasper, J-M; Loranth, K; Bittrich, HJ; Simma, B; Klinge, J; Fedlmaier, M; Weigand, N; Herting, E; Grube, R; Fusch, C; Gruber, A; Schimmel, U; Knaufer-Schiefer, S; Laessig, W; Hennenberger, A; von der Wense, A; Tillmann, R; Schwarick, J; Sitzmann, FC; Streif, W; Mueller, H; Kurnik, P; Groneck, P; Weiss, U; Groeblacher-Roth, H; Bensch, J; Moser, R; Schwarz, R; Lenz, K; Hofmann, T; Goepel, W; Schulz, D; Berger, T; Hauser, E; Foerster, KM; Peters, J; Nicolai, TH; Kumlien, B; Beckmann, R; Seitz, C; Hueseman, D; Schuermann, R; Ta, VH; Weikmann, E; Evert, W; Hautz, J; Seidenberg, J; Wocko, L; Luigs, P; Reiter, H-L; Quietzach, J; Koenig, M; Herrmann, J; Mitter, H; Seidler, E; Maak, B; Sperl, W; Zwiauer, K; Meissl, M; Koch, R; Cremer, M; Breuer, HA; Goerke, W; Nossal, R; Pernice, W; Brangenberg, R; Salzer, HR; Koch, H; Schaller, G; Paky, F; Strasser, F; Eitelberger, F; Sontheimer, D; Lischka, A; Kronberger, M; Dilch, A; Scheibenpflug, C; Bruckner, R; Mahler, K; Runge, K; Kunze, W; Schermann, P
Electronic Resource
Williams, LB; Javed, A; Sabri, A; Morgan, DJ; Huff, CD; Grigg, JR; Heng, XT; Khng, AJ; Hollink, Iris; Morrison, M A; Owen, LA; Anderson, K; Kinard, K; Greenlees, R; Novacic, D; Sen, HN; Zein, WM; Rodgers, GM; Vitale, AT; Haider, NB; Hillmer, AM; Ng, PC; Shankaracharya; Cheng, A; Zheng, LD; Gillies, MC; van Slegtenhorst, M; van Hagen, P.M.; Missotten, T; Farley, GL; Polo, M; Malatack, J; Curtin, J; Martin, F; Arbuckle, S; Alexander, SI; Chircop, M; Davila, S; Digre, KB; Jamieson, RV; DeAngelis, MM
Williams , LB , Javed , A , Sabri , A , Morgan , DJ , Huff , CD , Grigg , JR , Heng , XT , Khng , AJ , Hollink , I , Morrison , M A , Owen , LA , Anderson , K , Kinard , K , Greenlees , R , Novacic , D , Sen , HN , Zein , WM , Rodgers , GM , Vitale , AT , Haider , NB , Hillmer , AM , Ng , PC , Shankaracharya , Cheng , A , Zheng , LD , Gillies , MC , van Slegtenhorst , M , van Hagen , P M , Missotten , T , Farley , GL , Polo , M , Malatack , J , Curtin , J , Martin , F , Arbuckle , S , Alexander , SI , Chircop , M , Davila , S , Digre , KB , Jamieson , RV & DeAngelis , MM 2019 , ' ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder ' , Genetics in Medicine , vol. 21 , no. 9 , pp. 2103-2115 .
Academic Journal
Genes and Immunity. Apr 01, 2010 11(3):232-238
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