학술논문
'학술논문'
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Academic Journal
Ferreira, CR; Zein, WM; Huryn, LA; Merker, A; Berger, SI; Wilson, WG; Tiller, GE; Wolfe, LA; Merideth, M; Carvalho, DR; Duker, AL; Bratke, H; Haug, MG; Rohena, L; Hove, HB; Xia, ZJ; Ng, BG; Freeze, HH; Gabriel, M; Russi, AHS; Brick, L; Kozenko, M; Earl, DL; Tham, E; Nishimura, G; Phillips, JA; Gahl, WA; Hamid, R; Jackson, AP; Grigelioniene, G; Bober, MB
Genetics in medicine : official journal of the American College of Medical Genetics. 22(5):857-866
Academic Journal
Ferreira, CR; Xia, ZJ; Clement, A; Parry, DA; Davids, M; Taylan, F; Sharma, P; Turgeon, CT; Blanco-Sanchez, B; Ng, BG; Logan, CV; Wolfe, LA; Solomon, BD; Cho, MT; Douglas, G; Carvalho, DR; Bratke, H; Haug, MG; Phillips, JB; Wegner, J; Tiemeyer, M; Aoki, K; Nordgren, A; Hammarsjo, A; Duker, AL; Rohena, L; Hove, HB; Ek, J; Adams, D; Tifft, CJ; Onyekweli, T; Weixel, T; Macnamara, E; Radtke, K; Powis, Z; Earl, D; Gabriel, M; Russi, AHS; Brick, L; Kozenko, M; Tham, E; Raymond, KM; Phillips, JA; Tiller, GE; Wilson, WG; Hamid, R; Malicdan, MCV; Nishimura, G; Grigelioniene, G; Jackson, A; Westerfield, M; Bober, MB; Gahl, WA; Freeze, HH
American journal of human genetics. 103(4):553-567
Academic Journal
Savarirayan, R; Ireland, P; Irving, M; Thompson, D; Alves, I; Baratela, WAR; Betts, J; Bober, MB; Boero, S; Briddell, J; Campbell, J; Campeau, PM; Carl-Innig, P; Cheung, MS; Cobourne, M; Cormier-Daire, V; Deladure-Molla, M; del Pino, M; Elphick, H; Fano, V; Fauroux, B; Gibbins, J; Groves, ML; Hagenas, L; Hannon, T; Hoover-Fong, J; Kaisermann, M; Leiva-Gea, A; Llerena, J; Mackenzie, W; Martin, K; Mazzoleni, F; McDonnell, S; Meazzini, MC; Milerad, J; Mohnike, K; Mortier, GR; Offiah, A; Ozono, K; Phillips, JA; Powell, S; Prasad, Y; Raggio, C; Rosselli, P; Rossiter, J; Selicorni, A; Sessa, M; Theroux, M; Thomas, M; Trespedi, L; Tunkel, D; Wallis, C; Wright, M; Yasui, N; Fredwall, SO
Nature reviews. Endocrinology. 18(3):173-189
Electronic Resource
Gouya, L; Ventura, P; Balwani, M; Bissell, DM; Rees, DC; Stölzel, U; Phillips, JA; Kauppinen, R; Langendonk, Janneke; Desnick, RJ; Deybach, JC; Bonkovsky, HL; Parker, CA; Naik, H; Badminton, M; Stein, PE; Minder, E; Windyga, J; Bruha, R; Cappellini, MD; Sardh, E; Harper, PG; Sandberg, S; Aarsand, AK; Andersen, JB; Alegre, F; Ivanova, A; Talbi, N; Chan, A; Querbes, W; Ko, JJ; Penz, C; Liu, S; Lin, T; Simon, A; Anderson, KM
Gouya , L , Ventura , P , Balwani , M , Bissell , DM , Rees , DC , Stölzel , U , Phillips , JA , Kauppinen , R , Langendonk , J , Desnick , RJ , Deybach , JC , Bonkovsky , HL , Parker , CA , Naik , H , Badminton , M , Stein , PE , Minder , E , Windyga , J , Bruha , R , Cappellini , MD , Sardh , E , Harper , PG , Sandberg , S , Aarsand , AK , Andersen , JB , Alegre , F , Ivanova , A , Talbi , N , Chan , A , Querbes , W , Ko , JJ , Penz , C , Liu , S , Lin , T , Simon , A & Anderson , KM 2020 , ' EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks ' , Hepatology , vol. 71 , no. 5 , pp. 1546-1558 .
Academic Journal
Clinical Genetics. Dec, 2008, Vol. 74 Issue 6, p539, 7 p.
Academic Journal
Journal of Genetic Counseling; Feb2014, Vol. 23 Issue 1, p64-71, 8p
Electronic Resource
Kelly, M; Park, M; Mihalek, I; Rochtus, A; Gramm, M; Perez-Palma, E; Axeen, ET; Hung, CY; Olson, H; Swanson, L; Anselm, I; Briere, LC; High, FA; Sweetser, DA; Kayani, S; Snyder, M; Calvert, S; Scheffer, IE; Yang, E; Waugh, JL; Lal, D; Bodamer, O; Poduri, A; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Baker, E; Balasubramanyam, A; Barseghyan, H; Batzli, GF; Beggs, AH; Behnam, B; Bellen, HJ; Bernstein, JA; Bican, A; Bick, DP; Birch, CL; Bonner, D; Boone, BE; Bostwick, BL; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Chen, S; Clark, GD; Coakley, TR; Cogan, JD; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P; Davids, M; Davidson, JM; Dayal, JG; Dell'Angelica, EC; Dhar, SU; Dipple, KM; Donnell-Fink, LA; Dorrani, N; Dorset, DC; Douine, ED; Draper, DD; Dries, AM; Eckstein, DJ; Emrick, LT; Eng, CM; Enns, G-GM; Eskin, A; Esteves, C; Estwick, T; Fairbrother, L; Fernandez, L; Ferreira, C; Fieg, EL; Fisher, PG; Fogel, BL; Friedman, ND; Gahl, WA; Glanton, E; Godfrey, RA; Goldman, AM; Goldstein, DB; Gould, SE; Gourdine, J-PF; Groden, CA; Gropman, AL; Haendel, M; Hamid, R; Hanchard, NA; High, F; Holm, IA; Horn, J; Howerton, EM; Huang, Y; Jamal, F; Jiang, Y-H; Johnston, JM; Jones, AL; Karaviti, L; Koeller, DM; Kohane, IS; Kohler, JN; Konick, S; Koziura, M; Krasnewich, DM; Krier, JB; Kyle, JE; Lalani, SR; Lau, CC; Lazar, J; LeBlanc, K; Lee, BH; Lee, H; Levy, SE; Lewis, RA; Lincoln, SA; Loo, SK; Loscalzo, J; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Majch-erska, MM; Malicdan, MC; Mamounas, LA; Manolio, TA; Markello, TC; Marom, R; Martin, MG; Martinez-Agosto, JA; Mar-waha, S; May, T; McConkie-Rosell, A; McCormack, CE; McCray, AF; Merker, JD; Metz, TO; Might, M; Moretti, PM; Morimoto, M; Mulvihill, JJ; Murdock, DR; Murphy, JL; Muzny, DM; Nehrebecky, ME; Nelson, SF; Newberry, JS; Newman, JH; Nicholas, SK; Novacic, D; Orange, JS; Orengo, JP; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Pena, LDM; Phillips, JA; Posey, JE; Postlethwait, JH; Potocki, L; Pusey, BN; Reuter, CM; Rives, L; Robertson, AK; Rodan, LH; Rosenfeld, JA; Sampson, JB; Samson, SL; Schoch, K; Scott, DA; Shakachite, L; Sharma, P; Shashi, V; Signer, R; Silverman, EK; Sinsheimer, JS; Smith, KS; Spillmann, RC; Stoler, JM; Stong, N; Sullivan, JA; Tan, QK-G; Tifft, CJ; Toro, C; Tran, AA; Urv, TK; Vilain, E; Vogel, TP; Waggott, DM; Wahl, CE; Walker, M; Walley, NM; Walsh, CA; Wan, J; Wangler, MF; Ward, PA; Waters, KM; Webb-Robertson, B-JM; Westerfield, M; Wheeler, MT; Wise, AL; Wolfe, LA; Worthey, EA; Yamamoto, S; Yang, Y; Yoon, AJ; Yu, G; Zastrow, DB; Zhao, C; Zheng, A
Academic Journal
Sefah, K; Tang, ZW; Shangguan, DH; Chen, H; Lopez-Colon, D; Li, Y; Parekh, P; Martin, J; Meng, L; Phillips, JA; Kim, YM; Tan, WH
Leukemia. Feb 01, 2009 23(2):235-244
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