학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
Electronic Resource
Koczkowska, M; Callens, T; Chen, Y; Gomes, A; Hicks, AD; Sharp, A; Johns, E; Uhas, KA; Armstrong, L; Bosanko, KA; Babovic-Vuksanovic, D; Baker, L; Basel, DG; Bengala, M; Bennett, JT; Chambers, C; Clarkson, LK; Clementi, M; Cortes, FM; Cunningham, M; D'Agostino, MD; Delatycki, MB; Digilio, MC; Dosa, L; Esposito, S; Fox, S; Freckmann, M-L; Fauth, C; Giugliano, T; Giustini, S; Goetsch, A; Goldberg, Y; Greenwood, RS; Griffis, C; Gripp, KW; Gupta, P; Haan, E; Hachen, RK; Haygarth, TL; Hernandez-Chico, C; Hodge, K; Hopkin, RJ; Hudgins, L; Janssens, S; Keller, K; Kelly-Mancuso, G; Kochhar, A; Korf, BR; Lewis, AM; Liebelt, J; Lichty, A; Listernick, RH; Lyons, MJ; Maystadt, I; Ojeda, MM; McDougall, C; McGregor, LK; Melis, D; Mendelsohn, N; Nowaczyk, MJM; Ortenberg, J; Panzer, K; Pappas, JG; Pierpont, ME; Piluso, G; Pinna, V; Pivnick, EK; Pond, DA; Powell, CM; Rogers, C; Shahar, NR; Rutledge, SL; Saletti, V; Sandaradura, SA; Santoro, C; Schatz, UA; Schreiber, A; Scott, DA; Sellars, EA; Sheffer, R; Siqveland, E; Slopis, JM; Smith, R; Spalice, A; Stockton, DW; Streff, H; Theos, A; Tomlinson, GE; Tran, G; Trapane, PL; Trevisson, E; Ullrich, NJ; Van den Ende, J; Vergano, SAS; Wallace, SE; Wangler, MF; Weaver, DD; Yohay, KH; Zackai, E; Zonana, J; Zurcher, V; Claes, KBM; Eoli, M; Martin, Y; Wimmer, K; De Luca, A; Legius, E; Messiaen, LM
Electronic Resource
Koczkowska, M; Callens, T; Gomes, A; Sharp, A; Chen, YJ (Yuan Jia); Hicks, AD; Oostenbrink, Rianne; van Minkelen, Rick; Legius, E; Messiaen, LM
Koczkowska , M , Callens , T , Gomes , A , Sharp , A , Chen , YJ , Hicks , AD , Oostenbrink , R , van Minkelen , R , Legius , E & Messiaen , LM 2019 , ' Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation ' , Genetics in Medicine , vol. 21 , no. 4 , pp. 867-876 .
Electronic Resource
Koczkowska, M; Chen, YJ (Yuan Jia); Callens, T; Gomes, A; Sharp, A; Johnson, S; Hsiao, MC; Chen, ZB; Balasubramanian, M; Barnett, CP; Becker, TA; Ben-Shachar, S; Bertola, DR; Blakeley, JO; Burkitt-Wright, EMM; Callaway, A; Crenshaw, M; Cunha, KS; Cunningham, M; D'Agostino, MD; Dahan, K; Luca, A; Destree, A; Dhamija, R; Eoli, M; Evans, DGR; Galvin-Parton, P; George-Abraham, JK; Gripp, KW; Guevara-Campos, J; Hanchard, NA; Hernandez-Chico, C; Immken, L; Janssens, S; Jones, KJ; Keena, BA; Kochhar, A; Liebelt, J; Martir-Negron, A; Mahoney, MJ; Maystadt, I; McDougall, C; McEntagart, M; Mendelsohn, N; Miller, DT; Mortier, G; Morton, J; Pappas, J; Plotkin, SR; Pond, D; Rosenbaum, K; Rubin, K; Russell, L; Rutledge, LS; Saletti, V; Schonberg, R; Schreiber, A; Seidel, M; Siqveland, E; Stockton, DW; Trevisson, E; Ullrich, NJ; Upadhyaya, M; van Minkelen, Rick; Verhelst, H; Wallace, MR; Yap, YS; Zackai, E; Zonana, J; Zurcher, V; Claes, K; Martin, Y; Korf, BR; Legius, E; Messiaen, LM
Koczkowska , M , Chen , YJ , Callens , T , Gomes , A , Sharp , A , Johnson , S , Hsiao , MC , Chen , ZB , Balasubramanian , M , Barnett , CP , Becker , TA , Ben-Shachar , S , Bertola , DR , Blakeley , JO , Burkitt-Wright , EMM , Callaway , A , Crenshaw , M , Cunha , KS , Cunningham , M , D'Agostino , MD , Dahan , K , Luca , A , Destree , A , Dhamija , R , Eoli , M , Evans , DGR , Galvin-Parton , P , George-Abraham , JK , Gripp , KW , Guevara-Campos , J , Hanchard , NA , Hernandez-Chico , C , Immken , L , Janssens , S , Jones , KJ , Keena , BA , Kochhar , A , Liebelt , J , Martir-Negron , A , Mahoney , MJ , Maystadt , I , McDougall , C , McEntagart , M , Mendelsohn , N , Miller , DT , Mortier , G , Morton , J , Pappas , J , Plotkin , SR , Pond , D , Rosenbaum , K , Rubin , K , Russell , L , Rutledge , LS , Saletti , V , Schonberg , R , Schreiber , A , Seidel , M , Siqveland , E , Stockton , DW , Trevisson , E , Ullrich , NJ , Upadhyaya , M , van Minkelen , R , Verhelst , H , Wallace , MR , Yap , YS , Zackai , E , Zonana , J , Zurcher , V , Claes , K , Martin , Y , Korf , BR , Legius , E & Messiaen , LM 2018 , ' Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 ' , American Journal of Human Genetics , vol. 102 , no. 1 , pp. 69-87 .
Academic Journal
Bertola, DR; Pereira, AC; Brasil, AS; Suzuki, L; Leite, C; Falzoni, R; Tannuri, U; Poplawski, AB; Janowski, KM; Kim, CA; Messiaen, LM
Electronic Resource
Kaput, J; Cotton, RGH; Hardman, L; Watson, M; Al Aqeel, AI; Al-Aama, JY; Al-Mulla, F; Alonso, S; Aretz, S; Auerbach, AD; Bapat, B; Bernstein, IT; Bhak, J; Bleoo, SL; Bloecker, H; Brenner, SE; Burn, J; Bustamante, M; Calone, R; Cambon-Thomsen, A; Cargill, M; Carrera, P; Cavedon, L; Cho, YS; Chung, Y-J; Claustres, M; Cutting, G; Dalgleish, R; den Dunnen, JT; Diaz, C; Dobrowolski, S; dos Santos, MRN; Ekong, R; Flanagan, SB; Flicek, P; Furukawa, Y; Genuardi, M; Ghang, H; Golubenko, MV; Greenblatt, MS; Hamosh, A; Hancock, JM; Hardison, R; Harrison, TM; Hoffmann, R; Horaitis, R; Howard, HJ; Barash, CI; Izagirre, N; Jung, J; Kojima, T; Laradi, S; Lee, Y-S; Lee, J-Y; Gil-da-Silva-Lopes, VL; Macrae, FA; Maglott, D; Marafie, MJ; Marsh, SGE; Matsubara, Y; Messiaen, LM; Moeslein, G; Netea, MG; Norton, ML; Oefner, PJ; Oetting, WS; O'Leary, JC; Oller de Ramirez, AM; Paalman, MH; Parboosingh, J; Patrinos, GP; Perozzi, G; Phillips, IR; Povey, S; Prasad, S; Qi, M; Quin, DJ; Ramesar, RS; Richards, CS; Savige, J; Scheible, DG; Scott, RJ; Seminara, D; Shephard, EA; Sijmons, RH; Smith, TD; Sobrido, M-J; Tanaka, T; Tavtigian, SV; Taylor, GR; Teague, J; Toepel, T; Ullman-Cullere, M; Utsunomiya, J; van Kranen, HJ; Vihinen, M; Webb, E; Weber, TK; Yeager, M; Yeom, YI; Yim, S-H; Yoo, H-S
Academic Journal
Stevenson, DA; Zhou, H; Ashrafi, S; Messiaen, LM; Carey, JC; D'Astous, JL; Santora, SD; Viskochil, DH
Academic Journal
Beysen, D; Raes, J; Leroy, BP; Lucassen, A; Yates, JRW; Clayton-Smith, J; Ilyina, H; Brooks, SS; Christin-Maitre, S; Fellous, M; Fryns, JP; Kim, JR; Lapunzina, P; Lemyre, E; Meire, F; Messiaen, LM; Oley, C; Splitt, M; Thomson, J; Van de Peer, Y; Veitia, RA; De Paepe, A; De Baere, E
Academic Journal
Sharp, AM; Messiaen, LM; Page, G; Antignac, C; Gubler, MC; Onuchic, LF; Germino, GG; Guay-Woodford, LM
Academic Journal
Yardley, J; Leroy, BP; Hart-Holden, N; Lafaut, BA; Loeys, B; Messiaen, LM; Perveen, R; Reddy, MA; Bhattacharya, SS; Traboulsi, E; Baralle, D; De Laey, JJ; Puech, B; Kestelyn, P; Moore, AT; Manson, FDC; Black, GCM
Academic Journal
Messiaen, LM; Callens, T; Mortier, G; Beysen, D; Vandenbroucke, I; Van Roy, N; Speleman, F; De Paepe, A
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