학술논문
'학술논문'
에서 검색결과 32건 | 목록
1~10
Academic Journal
Teek, R; Kruustük, K; Žordania, R; Joost, K; Kahre, T; Tõnisson, N; Nelis, M; Zilina, O; Tranebjaerg, L; Reimand, T; Õunap, K
In Advances in Medical Sciences 1 December 2013 58(2):419-428
Electronic Resource
Loberti, L; Bruno, L; Granata, S; Doddato, G; Resciniti, S; Fava, F; Carullo, M; Rahikkala, E; Jouret, G; Menke, L; Lederer, D; Vrielynck, P; Ryba, L; Brunetti-Pierri, N; Lasa-Aranzasti, A; Cueto-González, A; Trujillano, L; Valenzuela, I; Tizzano, E; Spinelli, A; Bruno, I; Currò, A; Stanzial, F; Benedicenti, F; Lopergolo, D; Santorelli, F; Aristidou, C; Tanteles, G; Maystadt, I; Tkemaladze, T; Reimand, T; Lokke, H; Õunap, K; Haanpää, M; Holubová, A; Zoubková, V; Schwarz, M; Žordania, R; Muru, K; Roht, L; Tihveräinen, A; Teek, R; Thomson, U; Isis, A; Superti-Furga, A; Buoni, S; Canitano, R; Scandurra, V; Rossetti, A; Grosso, S; Battini, R; Baldassarri, M; Mencarelli, M; Rizzo, C; Bruttini, M; Mari, F; Ariani, F; Renieri, A; Pinto, A; Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria
Electronic Resource
Woldegebriel, R; Kvist, J; Andersson, N; Ounap, K; Reinson, K; Wojcik, MH; Bijlsma, EK; Hoffer, MJ; Ryan, MM; Stark, Z; Walsh, M; Cuppen, I; van den Boogaard, M-JH; Bharucha-Goebel, D; Donkervoort, S; Winchester, S; Zori, R; Bonnemann, CG; Maroofian, R; O'Connor, E; Houlden, H; Zhao, F; Carpen, O; White, M; Sreedharan, J; Stewart, M; Ylikallio, E; Tyynismaa, H
Electronic Resource
Crow, YJ; Marshall, H; Rice, G; Seabra, L; Jenkinson, EM; Baranano, K; Battini, R; Berger, A; Blair, E; Blauwblomme, T; Bolduc, F; Boddaert, N; Buckard, J; Burnett, H; Calvert, S; Caumes, R; Ng, AC-H; Chiang, D; Clifford, DB; Cordelli, DM; Burca, A; Demic, N; Desguerre, I; De Waele, L; Di Fonzo, A; Dunham, SR; Dyack, S; Elmslie, F; Ferrand, M; Fisher, G; Karimiani, EG; Ghoumid, J; Gibbon, F; Goel, H; Hilmarsen, HT; Hughes, I; Jacob, A; Jones, EA; Kumar, R; Leventer, RJ; MacDonald, S; Maroofian, R; Mehta, SG; Metz, I; Monfrini, E; Neumann, D; Noetzel, M; O'Driscoll, M; Ounap, K; Panzer, A; Parikh, S; Prabhakar, P; Ramond, F; Sandford, R; Saneto, R; Soh, C; Stutterd, CA; Subramanian, GM; Talbot, K; Thomas, RH; Toro, C; Touraine, R; Wakeling, E; Wassmer, E; Whitney, A; Livingston, JH; O'Keefe, RT; Badrock, AP
Academic Journal
van de Kamp, J M; Betsalel, O T; Mercimek-Mahmutoglu, S; Abulhoul, L; Grünewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, M A; Cheillan, D; D’Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; Frints, S; Wilcken, B; von der Haar, S; Meijers-Heijboer, H E; Hofstede, F; Johnson, D; Kant, S G; Lion-Francois, L; Pitelet, G; Longo, N; Maat-Kievit, J A; Monteiro, J P; Munnich, A; Muntau, A C; Nassogne, M C; Osaka, H; Ounap, K; Pinard, J M; Quijano-Roy, S; Poggenburg, I; Poplawski, N; Abdul-Rahman, O; Ribes, A; Arias, A; Yaplito-Lee, J; Schulze, A; Schwartz, C E; Schwenger, S; Soares, G; Sznajer, Y; Valayannopoulos, V; Van Esch, H; Waltz, S; Wamelink, M M C; Pouwels, P J W; Errami, A; van der Knaap, M S; Jakobs, C; Mancini, G M; Salomons, G S
Journal of Medical Genetics. Jul 01, 2013 50(7):463-472
Electronic Resource
Rubio-Gozalbo, ME; Haskovic, M; Bosch, AM; Burnyte, B; Coelho, AI; Cassiman, D; Couce, ML; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, MT; Grunewald, S; Haberle, J; Hochuli, M; Hubert, A; Huidekoper, Hidde; Janeiro, P; Kotzka, J; Knerr, I; Labrune, P; Landau, YE; Langendonk, Janneke; Moeslinger, D; Mueller-Wieland, D; Murphy, E; Ounap, K; Ramadza, D; Rivera, IA; Scholl-Buergi, S; Stepien, KM; Thijs, A; Tran, C; Vara, R; Visser, G; Vos, Reinder; Vries, M; Waisbren, SE; Welsink-Karssies, MM; Wortmann, SB; Gautschi, M; Treacy, EP; Berry, GT
Rubio-Gozalbo , ME , Haskovic , M , Bosch , AM , Burnyte , B , Coelho , AI , Cassiman , D , Couce , ML , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , MT , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , YE , Langendonk , J , Moeslinger , D , Mueller-Wieland , D , Murphy , E , Ounap , K , Ramadza , D , Rivera , IA , Scholl-Buergi , S , Stepien , KM , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , Vries , M , Waisbren , SE , Welsink-Karssies , MM , Wortmann , SB , Gautschi , M , Treacy , EP & Berry , GT 2019 , ' The natural history of classic galactosemia: lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , 86 .
Academic Journal
van Bon, B W M; Mefford, H C; Menten, B; Koolen, D A; Sharp, A J; Nillesen, W M; Innis, J W; de Ravel, T J L; Mercer, C L; Fichera, M; Stewart, H; Connell, L E; Õunap, K; Lachlan, K; Castle, B; Van der Aa, N; van Ravenswaaij, C; Nobrega, M A; Serra-Juhé, C; Simonic, I; de Leeuw, N; Pfundt, R; Bongers, E M; Baker, C; Finnemore, P; Huang, S; Maloney, V K; Crolla, J A; van Kalmthout, M; Elia, M; Vandeweyer, G; Fryns, J P; Janssens, S; Foulds, N; Reitano, S; Smith, K; Parkel, S; Loeys, B; Woods, C G; Oostra, A; Speleman, F; Pereira, A C; Kurg, A; Willatt, L; Knight, S J L; Vermeesch, J R; Romano, C; Barber, J C; Mortier, G; Pérez-Jurado, L A; Kooy, F; Brunner, H G; Eichler, E E; Kleefstra, T; de Vries, B B A
Journal of Medical Genetics. Aug 01, 2009 46(8):511-523
Academic Journal
Bartholdi, D; Krajewska-Walasek, M; Õunap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A
Journal of Medical Genetics. Mar 01, 2009 46(3):192-197
Electronic Resource
UCL - SSS/IONS/NEUR - Clinical Neuroscience; UCL - SSS/IREC - Institut de recherche expérimentale et clinique; UCL - (SLuc) Centre de génétique médicale UCL; UCL - (SLuc) Service de neurologie pédiatrique; van de Kamp, J M; Betsalel, O T; Mercimek-Mahmutoglu, S; Abulhoul, L; Grünewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, M A; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; Frints, S; Wilcken, B; von der Haar, S; Meijers-Heijboer, H E; Hofstede, F; Johnson, D; Kant, S G; Lion-Francois, L; Pitelet, G; Longo, N; Maat-Kievit, J A; Monteiro, J P; Munnich, A; Muntau, A C; Nassogne, Marie-Cécile; Osaka, H; Ounap, K; Pinard, J M; Quijano-Roy, S; Poggenburg, I; Poplawski, N; Abdul-Rahman, O; Ribes, A; Arias, A; Yaplito-Lee, J; Schulze, A; Schwartz, C E; Schwenger, S; Soares, G; Sznajer, Yves; Valayannopoulos, V; Van Esch, H; Waltz, S; Wamelink, M M C; Pouwels, P J W; Errami, A; van der Knaap, M S; Jakobs, C; Mancini, G M; Salomons, G S
Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 50, no. 7, p. 463-472 (2013)
Electronic Resource
Teek, R; Kruustük, K; Zordania, R; Joost, K; Kahre, T; Tõnisson, N; Nelis, M; Zilina, O; Tranebjærg, Lisbeth; Reimand, T; Ounap, K
Teek , R , Kruustük , K , Zordania , R , Joost , K , Kahre , T , Tõnisson , N , Nelis , M , Zilina , O , Tranebjærg , L , Reimand , T & Ounap , K 2013 , ' Hearing impairment in Estonia : An algorithm to investigate genetic causes in pediatric patients ' , Advances in Medical Sciences , vol. 58 , no. 2 , pp. 419–428 .
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