학술논문
'학술논문'
에서 검색결과 115건 | 목록
1~10
Academic Journal
Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Electronic Resource
Stutterd, CA; Vanderver, A; Lockhart, PJ; Helman, G; Pope, K; Uebergang, E; Love, C; Delatycki, MB; Thorburn, D; Mackay, MT; Peters, H; Kornberg, AJ; Patel, C; Rodriguez-Casero, V; Waak, M; Silberstein, J; Sinclair, A; Nolan, M; Field, M; Davis, MR; Fahey, M; Scheffer, IE; Freeman, JL; Wolf, N; Taft, RJ; van der Knaap, MS; Simons, C; Leventer, RJ
Electronic Resource
Electronic Resource
Frazier, AE; Compton, AG; Kishita, Y; Hock, DH; Welch, AE; Amarasekera, SSC; Rius, R; Formosa, LE; Imai-Okazaki, A; Francis, D; Wang, M; Lake, NJ; Tregoning, S; Jabbari, JS; Lucattini, A; Nitta, KR; Ohtake, A; Murayama, K; Amor, DJ; McGillivray, G; Wong, FY; van der Knaap, MS; Vermeulen, RJ; Wiltshire, EJ; Fletcher, JM; Lewis, B; Baynam, G; Ellaway, C; Balasubramaniam, S; Bhattacharya, K; Freckmann, M-L; Arbuckle, S; Rodriguez, M; Taft, RJ; Sadedin, S; Cowley, MJ; Minoche, AE; Calvo, SE; Mootha, VK; Ryan, MT; Okazaki, Y; Stroud, DA; Simons, C; Christodoulou, J; Thorburn, DR
Electronic Resource
Stellingwerff, MD; Figuccia, S; Bellacchio, E; Alvarez, K; Castiglioni, C; Topaloglu, P; Stutterd, CA; Erasmus, CE; Sanchez-Valle, A; Lebon, S; Hughes, S; Schmitt-Mechelke, T; Vasco, G; Chow, G; Rahikkala, E; Dallabona, C; Okuma, C; Aiello, C; Goffrini, P; Abbink, TEM; Bertini, ES; Van der Knaap, MS
Electronic Resource
van Geest, Ferdy; Meima, Marcel; Stuurman, Kyra; Wolf, NI; van der Knaap, MS; Lorea, CF; Poswar, FO; Vairo, F; Brunetti-Pierri, N; Cappuccio, G; Bakhtiani, P; de Munnik, SA; Peeters, Robin; Visser, Edward; Groeneweg, Stefan
van Geest , F , Meima , M , Stuurman , K , Wolf , NI , van der Knaap , MS , Lorea , CF , Poswar , FO , Vairo , F , Brunetti-Pierri , N , Cappuccio , G , Bakhtiani , P , de Munnik , SA , Peeters , R , Visser , E & Groeneweg , S 2021 , ' Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series ' , The Journal of clinical endocrinology and metabolism , vol. 106 , no. 2 , pp. 539-553 .
Electronic Resource
Groeneweg, S; van Geest, FS; Abaci, A; Alcantud, A; Ambegaonkar, GP; Armour, CM; Bakhtiani, P; Barca, D; Bertini, ES; van Beynum, IM; Brunetti-Pierri, N; Bugiani, M; Cappa, M; Cappuccio, G; Castellotti, B; Castiglioni, C; Chatterjee, K; de Coo, IFM; Coutant, R; Craiu, D; Crock, P; DeGoede, C; Demir, K; Dica, A; Dimitri, P; Dolcetta-Capuzzo, A; Dremmen, MHG; Dubey, R; Enderli, A; Fairchild, J; Gallichan, J; George, B; Gevers, EF; Hackenberg, A; Halasz, Z; Heinrich, B; Huynh, T; Klosowska, A; van der Knaap, MS; van der Knoop, MM; Konrad, D; Koolen, DA; Krude, H; Lawson-Yuen, A; Lebl, J; Linder-Lucht, M; Lorea, CF; Lourenco, CM; Lunsing, RJ; Lyons, G; Malikova, J; Mancilla, EE; McGowan, A; Mericq, V; Lora, FM; Moran, C; Mueller, KE; Oliver-Petit, I; Paone, L; Paul, PG; Polak, M; Porta, F; Poswar, FO; Reinauer, C; Rozenkova, K; Menevse, TS; Simm, P; Simon, A; Singh, Y; Spada, M; van der Spek, J; Stals, MAM; Stoupa, A; Subramanian, GM; Tonduti, D; Turan, S; den Uil, CA; Vanderniet, J; van der Walt, A; Wemeau, J-L; Wierzba, J; de Wit, M-CY; Wolf, N; Wurm, M; Zibordi, F; Zung, A; Zwaveling-Soonawala, N; Visser, WE
Electronic Resource
Beerepoot, S; van Dooren, SJM; Salomons, GS; Boelens, JJ; Jacobs, Ed; van der Knaap, MS; van Kuilenburg, ABP; Wolf, NI
Beerepoot , S , van Dooren , SJM , Salomons , GS , Boelens , JJ , Jacobs , E , van der Knaap , MS , van Kuilenburg , ABP & Wolf , NI 2020 , ' Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients ' , Neurogenetics , vol. 21 , no. 4 , pp. 289-299 .
Electronic Resource
Vanderver, A; Simons, C; Helman, G; Crawford, J; Wolf, NI; Bernard, G; Pizzino, A; Schmidt, JL; Takanohashi, A; Miller, D; Khouzam, A; Rajan, V; Ramos, E; Chowdhury, S; Hambuch, T; Ru, K; Baillie, GJ; Grimmond, SM; Caldovic, L; Devaney, J; Bloom, M; Evans, SH; Murphy, JLP; McNeill, N; Fogel, BL; Schiffmann, R; van der Knaap, MS; Taft, RJ
Electronic Resource
Theunissen, T E J; Szklarczyk, R; Gerards, M; Hellebrekers, DMEI; den Hartog, NM (Elvira); Vanoevelen, J; Kamps, R; de Koning, B; Rutledge, S L; Schmitt-Mechelke, T; van Berkel, CGM; van der Knaap, MS; Coo, IFM; Smeets, HJM
Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 .
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[AR] Van der Knaap, MS
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