학술논문
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Electronic Resource
Archibald, AD; McClaren, BJ; Caruana, J; Tutty, E; King, EA; Halliday, JL; Best, S; Kanga-Parabia, A; Bennetts, BH; Cliffe, CC; Madelli, EO; Ho, G; Liebelt, J; Long, JC; Braithwaite, J; Kennedy, J; Massie, J; Emery, JD; McGaughran, J; Marum, JE; Boggs, K; Barlow-Stewart, K; Burnett, L; Dive, L; Freeman, L; Davis, MR; Downes, MJ; Wallis, M; Ferrie, MM; Pachter, N; Scuffham, PA; Casella, R; Allcock, RJN; Ong, R; Edwards, S; Righetti, S; Lunke, S; Lewis, S; Walker, SP; Boughtwood, TF; Hardy, T; Newson, AJ; Kirk, EP; Laing, NG; Delatycki, MB
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
Academic Journal
Stessman, HAF; Xiong, B; Coe, BP; Wang, TY; Hoekzema, K; Fenckova, M; Kvarnung, M; Gerdts, J; Trinh, S; Cosemans, N; Vives, L; Lin, J; Turner, TN; Santen, G; Ruivenkamp, C; Kriek, M; van Haeringen, A; Aten, E; Friend, K; Liebelt, J; Barnett, C; Haan, E; Shaw, M; Gecz, J; Anderlid, BM; Nordgren, A; Lindstrand, A; Schwartz, C; Kooy, RF; Vandeweyer, G; Helsmoortel, C; Romano, C; Alberti, A; Vinci, M; Avola, E; Giusto, S; Courchesne, E; Pramparo, T; Pierce, K; Nalabolu, S; Amaral, DG; Scheffer, IE; Delatycki, MB; Lockhart, PJ; Hormozdiari, F; Harich, B; Castells-Nobau, A; Xia, K; Peeters, H; Nordenskjold, M; Schenck, A; Bernier, RA; Eichler, EE
Nature genetics. 49(4):515
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
Academic Journal
Clinical Genetics. Feb 01, 2008 73(2):160-164
Academic Journal
Tatton-Brown, K; Douglas, J; Coleman, K; Baujat, G; Chandler, K; Clarke, A; Collins, A; Davies, S; Faravelli, F; Firth, H; Garrett, C; Hughes, H; Kerr, B; Liebelt, J; Reardon, W; Schaefer, G B; Splitt, M; Temple, I K; Waggoner, D; Weaver, D D; Wilson, L; Cole, T; Cormier-Daire, V; Irrthum, A; Rahman, N
JOURNAL OF MEDICAL GENETICS. Apr 01, 2005 42(4):307-313
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 .
Electronic Resource
Hoon, Bas; Splinter, E; Eussen, HJFMM (Bert); Douben, Hannie; Rentmeester, Eveline; van de Heijning, M; Laven, Joop; de Klein, Annelies; Liebelt, J; Gribnau, Joost
Hoon , B , Splinter , E , Eussen , HJFMM , Douben , H , Rentmeester , E , van de Heijning , M , Laven , J , de Klein , A , Liebelt , J & Gribnau , J 2017 , ' X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre ' , Philosophical Transactions of the Royal Society of London Series B-Biologic , vol. 372 , no. 1733 , 20160359 .
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