학술논문
'학술논문'
에서 검색결과 9건 | 목록
1~10
Academic Journal
Jansen, S; Hoischen, A; Coe, BP; Carvill, GL; Van Esch, H; Bosch, DGM; Andersen, UA; Baker, C; Bauters, M; Bernier, RA; van Bon, BW; Claahsen-van der Grinten, HL; Gecz, J; Gilissen, C; Grillo, L; Hackett, A; Kleefstra, T; Koolen, D; Kvarnung, M; Larsen, MJ; Marcelis, C; McKenzie, F; Monin, ML; Nava, C; Schuurs-Hoeijmakers, JH; Pfundt, R; Steehouwer, M; Stevens, SJC; Stumpel, CT; Vansenne, F; Vinci, M; van de Vorst, M; de Vries, P; Witherspoon, K; Veltman, JA; Brunner, HG; Mefford, HC; Romano, C; Vissers, LELM; Eichler, EE; de Vries, BBA
European journal of human genetics : EJHG. 26(1):54-63
Academic Journal
Andersson-Assarsson, JC; van Deuren, RC; Kristensson, FM; Steehouwer, M; Sjoholm, K; Svensson, PA; Pieterse, M; Gilissen, C; Taube, M; Jacobson, P; Perkins, R; Brunner, HG; Netea, MG; Peltonen, M; Carlsson, B; Hoischen, A; Carlsson, LMS
EBioMedicine. 92:104621
Academic Journal
Acuna-Hidalgo, R; Schanze, D; Kariminejad, A; Nordgren, A; Kariminejad, MH; Conner, P; Grigelioniene, G; Nilsson, D; Nordenskjold, M; Wedell, A; Freyer, C; Wredenberg, A; Wieczorek, D; Gillessen-Kaesbach, G; Kayserili, H; Elcioglu, N; Ghaderi-Sohi, S; Goodarzi, P; Setayesh, H; van de Vorst, M; Steehouwer, M; Pfundt, R; Krabichler, B; Curry, C; MacKenzie, MG; Boycott, KM; Gilissen, C; Janecke, AR; Hoischen, A; Zenker, M
American journal of human genetics. 95(3):285-293
Electronic Resource
van de Putte, R; Dworschak, GC; Brosens, Erwin; Reutter, HM; Marcelis, CL; Acuna-Hidalgo, R; Kurtas, NE; Steehouwer, M; Dunwoodie, SL; Schmiedeke, E; Marzheuser, S; Schwarzer, N; Brooks, Alice; de Klein, Annelies; Sloots, C.E.J.; Tibboel, Dick; Brisighelli, G; Morandi, A; Bedeschi, MF; Bates, MD; Levitt, MA; de la Pena, A; de Blaauw, I; Roeleveld, N; Brunner, HG; de Rooij, I; Hoischen, A
van de Putte , R , Dworschak , GC , Brosens , E , Reutter , HM , Marcelis , CL , Acuna-Hidalgo , R , Kurtas , NE , Steehouwer , M , Dunwoodie , SL , Schmiedeke , E , Marzheuser , S , Schwarzer , N , Brooks , A , de Klein , A , Sloots , C E J , Tibboel , D , Brisighelli , G , Morandi , A , Bedeschi , MF , Bates , MD , Levitt , MA , de la Pena , A , de Blaauw , I , Roeleveld , N , Brunner , HG , de Rooij , I & Hoischen , A 2020 , ' A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies ' , Frontiers in Pediatrics , vol. 8 , 310 .
Academic Journal
Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E MHF; del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C L; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J HM; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B BA; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A
Clinical Genetics. Dec 01, 2013 84(6):539-545
Electronic Resource
van de Putte, R; Wijers, CHW; Reutter, H; Vermeulen, SH; Marcelis, CLM; Brosens, Erwin; Broens, PMA; Homberg, M; Ludwig, M; Jenetzky, E; Zwink, N; Sloots, C.E.J.; de Klein, Annelies; Brooks, Alice; Hofstra, Robert; Holsink, SAC; van der Zanden, LFM; Galesloot, TE; Tam, PKH; Steehouwer, M; Acuna-Hidalgo, R; van de Vorst, M; Kiemeney, LA; Garcia-Barcelo, MM; de Blaauw, I; Brunner, HG; Roeleveld, N; de Rooij, I
van de Putte , R , Wijers , CHW , Reutter , H , Vermeulen , SH , Marcelis , CLM , Brosens , E , Broens , PMA , Homberg , M , Ludwig , M , Jenetzky , E , Zwink , N , Sloots , C E J , de Klein , A , Brooks , A , Hofstra , R , Holsink , SAC , van der Zanden , LFM , Galesloot , TE , Tam , PKH , Steehouwer , M , Acuna-Hidalgo , R , van de Vorst , M , Kiemeney , LA , Garcia-Barcelo , MM , de Blaauw , I , Brunner , HG , Roeleveld , N & de Rooij , I 2019 , ' Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations ' , PLoS One (online) , vol. 14 , no. 5 , e0217477 .
Electronic Resource
Acuna-Hidalgo, R; Deriziotis, P; Steehouwer, M; Gilissen, C; Graham, SA; van Dam, S; Hoover-Fong, J; Telegrafi, AB; Destree, A; Smigiel, R; Lambie, LA; Kayserili, H; Altunoglu, U; Lapi, E; Uzielli, ML; Aracena, M; Nur, BG; Mihci, E; Moreira, LMA; Ferreira, VB; Horovitz, D D G; da Rocha, KM; Jezela-Stanek, A; Brooks, Alice; Reutter, H; Cohen, JS; Fatemi, A; Smitka, M; Grebe, TA; Di Donato, N; Deshpande, C; Vandersteen, A; Lourenco, CM; Dufke, A; Rossier, E; Andre, G; Baumer, A; Spencer, C; McGaughran, J; Franke, L; Veltman, JA; de Vries, BBA; Schinzel, A; Fisher, SE; Hoischen, A; van Bon, BW
Acuna-Hidalgo , R , Deriziotis , P , Steehouwer , M , Gilissen , C , Graham , SA , van Dam , S , Hoover-Fong , J , Telegrafi , AB , Destree , A , Smigiel , R , Lambie , LA , Kayserili , H , Altunoglu , U , Lapi , E , Uzielli , ML , Aracena , M , Nur , BG , Mihci , E , Moreira , LMA , Ferreira , VB , Horovitz , D D G , da Rocha , KM , Jezela-Stanek , A , Brooks , A , Reutter , H , Cohen , JS , Fatemi , A , Smitka , M , Grebe , TA , Di Donato , N , Deshpande , C , Vandersteen , A , Lourenco , CM , Dufke , A , Rossier , E , Andre , G , Baumer , A , Spencer , C , McGaughran , J , Franke , L , Veltman , JA , de Vries , BBA , Schinzel , A , Fisher , SE , Hoischen , A & van Bon , BW 2017 , ' Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies ' , PLoS Genetics (online) , vol. 13 , no. 3 , e1006683 .
Electronic Resource
UCL - SSS/IREC - Institut de recherche expérimentale et clinique; UCL - (SLuc) Centre de génétique médicale UCL; Makrythanasis, P; van Bon, Bw; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, Bm; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, Emhf; Del Campo, M; Cordeiro, I; Cueto-González, Am; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, Sm; Hoyer, J; Yntema, Hg; Kets, Cm; Koolen, DA; Marcelis, Cl; Medeira, A; Micale, L; Mohammed, S; de Munnik, Sa; Nordgren, A; Psoni, S; Reardon, W; Revencu, Nicole; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, Hg; Schoumans, J; Schuurs-Hoeijmakers, Jhm; Silengo, Mc; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, Rc; Perez-Jurado, L; Dupont, J; de Vries, Bba; Brunner, Hg; Veltman, Ja; Merla, G; Antonarakis, Se; Hoischen, A
Clinical Genetics : an international journal of genetics and molecular medicine, Vol. 84, no. 6, p. 539-545 (2013)
Conference
Khan, M; Cornelis, S; Valero, MD; Khan, MI; Stohr, H; Grassmann, F; Steehouwer, M; Hoischen, A; Ayuso, C; Ramesar, R; Meunier, IA; Defoort, S; Weber, BHF; Dhaenens, CM; Cremers, FP
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(9)
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[AR] Steehouwer, M
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