학술논문
'학술논문'
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1~10
Academic Journal
Frankova, V; Driscoll, RO; Jansen, ME; Loeber, JG; Kozich, V; Bonham, J; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Fingerhut, R; Kus, IB; Girginoudis, P; Groselj, U; Hougaard, D; Knapkova, M; la Marca, G; Malniece, I; Nanu, MI; Nennstiel, U; Olkhovych, N; Oltarzewski, M; Pettersen, RD; Racz, G; Reinson, K; Salimbayeva, D; Songailiene, J; Vilarinho, L; Vogazianos, M; Zetterstrom, RH; Zeyda, M
European journal of human genetics : EJHG. 29(1):67-78
Academic Journal
Votava, F.; Hedelová, M.; Kožich, V.; Pešková, K.; Chrastina, P.; Vinohradská, H.; Friedecký, D.; Holubová, A.; Gaillyová, R.
In: Cesko-Slovenska Pediatrie . (Cesko-Slovenska Pediatrie, 2024, 79(3):133-135)
Academic Journal
Keller, R; Chrastina, P; Pavlikova, M; Gouveia, S; Ribes, A; Kolker, S; Blom, HJ; Baumgartner, MR; Bartl, J; Dionisi-Vici, C; Gleich, F; Morris, AA; Kozich, V; Huemer, M; Baric, I; Ben-Omran, T; Blasco-Alonso, J; Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Couce, ML; Crushell, E; Pecellin, CD; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Jimenez, IG; Gallego, IG; Gonzalez-Irazabal, Y; Gramer, G; Fita, MJJ; Karg, E; Klein, J; Konstantopoulou, V; la Marca, G; Teles, EL; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Okun, JG; Pasquini, E; Pedron-Giner, CC; Racz, GZ; Gomez, MAR; Vilarinho, L; Yahyaoui, R; Tansek, MZ; Zetterstrom, RH; Zeyda, M
Journal of inherited metabolic disease. 42(1):128-139
Academic Journal
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Academic Journal
Loeber, JG; Platis, D; Zetterström, RH; Almashanu, S; Boemer, F; Bonham, JR; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Dimitrov, D; Fingerhut, R; Franzson, L; Groselj, U; Hougaard, D; Knapkova, M; Kocova, M; Kotori, V; Kozich, V; Kremezna, A; Kurkijärvi, R; La Marca, G; Mikelsaar, R; Milenkovic, T; Mitkin, V; Moldovanu, F; Ceglarek, U; O'Grady, L; Oltarzewski, M; Pettersen, RD; Ramadza, D; Salimbayeva, D; Samardzic, M; Shamsiddinova, M; Songailiené, J; Szatmari, I; Tabatadze, N; Tezel, B; Toromanovic, A; Tovmasyan, I; Usurelu, N; Vevere, P; Vilarinho, L; Vogazianos, M; Yahyaoui, R; Zeyda, M; Schielen, PCJI
International journal of neonatal screening. 7(1)
Academic Journal
McHugh, DMS; Cameron, CA; Abdenur, JE; Abdulrahman, M; Adair, O; Al Nuaimi, SA; Ahlman, H; Allen, JJ; Antonozzi, I; Archer, S; Au, S; Auray-Blais, C; Baker, M; Bamforth, F; Beckmann, K; Pino, GB; Berberich, SL; Binard, R; Boemer, F; Bonham, J; Breen, NN; Bryant, SC; Caggana, M; Caldwell, SG; Camilot, M; Campbell, C; Carducci, C; Cariappa, R; Carlisle, C; Caruso, U; Cassanello, M; Castilla, AM; Ramos, DEC; Chakraborty, P; Chandrasekar, R; Ramos, AC; Cheillan, D; Chien, YH; Childs, TA; Chrastina, P; Sica, YC; de Juan, JAC; Colandre, ME; Espinoza, VC; Corso, G; Currier, R; Cyr, D; Czuczy, N; D'Apolito, O; Davis, T; de Sain-Van der Velden, MG; Pecellin, CD; Di Gangi, IM; Di Stefano, CM; Dotsikas, Y; Downing, M; Downs, SM; Dy, B; Dymerski, M; Rueda, I; Elvers, B; Eaton, R; Eckerd, BM; El Mougy, F; Eroh, S; Espada, M; Evans, C; Fawbush, S; Fijolek, KF; Fisher, L; Franzson, L; Frazier, DM; Garcia, LRC; Bermejo, MSGV; Gavrilov, D; Gerace, R; Giordano, G; Irazabal, YG; Greed, LC; Grier, R; Grycki, E; Gu, XF; Gulamali-Majid, F; Hagar, AF; Han, LS; Hannon, WH; Haslip, C; Hassan, FA; He, MA; Hietala, A; Himstedt, L; Hoffman, GL; Hoffman, W; Hoggatt, P; Hopkins, PV; Hougaard, DM; Hughes, K; Hunt, PR; Hwu, WL; Hynes, J; Ibarra-Gonzalez, I; Ingham, CA; Ivanova, M; Jacox, WB; John, C; Johnson, JP; Jonsson, JJ; Karg, E; Kasper, D; Klopper, B; Katakouzinos, D; Khneisser, I; Knoll, D; Kobayashi, H; Koneski, R; Kozich, V; Kouapei, R; Kohlmueller, D; Kremensky, I; la Marca, G; Lavochkin, M; Lee, SY; Lehotay, DC; Lemes, A; Lepage, J; Lesko, B; Lewis, B; Lim, C; Linard, S; Lindner, M; Lloyd-Puryear, MA; Lorey, F; Loukas, YL; Luedtke, J; Maffitt, N; Magee, JF; Manning, A; Manos, S; Marie, S; Hadachi, SM; Marquardt, G; Martin, SJ; Matern, D; Gibson, SKM; Mayne, P; McCallister, TD; McCann, M; McClure, J; McGill, JJ; McKeever, CD; McNeilly, B; Morrissey, MA; Moutsatsou, P; Mulcahy, EA; Nikoloudis, D; Norgaard-Pedersen, B; Oglesbee, D; Oltarzewski, M; Ombrone, D; Ojodu, J; Papakonstantinou, V; Reoyo, SP; Park, HD; Pasquali, M; Pasquini, E; Patel, P; Pass, KA; Peterson, C; Pettersen, RD; Pitt, JJ; Poh, S; Pollak, A; Porter, C; Poston, PA; Price, RW; Queijo, C; Quesada, J; Randell, E; Ranieri, E; Raymond, K; Reddic, JE; Reuben, A; Ricciardi, C; Rinaldo, P; Rivera, JD; Roberts, A; Rocha, H; Roche, G; Greenberg, CR; Mellado, JME; Juan-Fita, MJ; Ruiz, C; Ruoppolo, M; Rutledge, SL; Ryu, EJ; Saban, C; Sahai, I; Garcia-Blanco, MIS; Santiago-Borrero, P; Schenone, A; Schoos, R; Schweitzer, B; Scott, P; Seashore, MR; Seeterlin, MA; Sesser, DE; Sevier, DW; Shone, SM; Sinclair, G; Skrinska, VA; Stanley, EL; Strovel, ET; Jones, ALS; Sunny, S; Takats, Z; Tanyalcin, T; Teofoli, F; Thompson, JR; Tomashitis, K; Domingos, MT; Torres, J; Torres, R; Tortorelli, S; Turi, S; Turner, K; Tzanakos, N; Valiente, AG; Vallance, H; Vela-Amieva, M; Vilarinho, L; von Dobeln, U; Vincent, MF; Vorster, BC; Watson, MS; Webster, D; Weiss, S; Wilcken, B; Wiley, V; Williams, SK; Willis, SA; Woontner, M; Wright, K; Yahyaoui, R; Yamaguchi, S; Yssel, M; Zakowicz, WM
Genetics in medicine : official journal of the American College of Medical Genetics. 13(3):230-254
Academic Journal
Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K; Gruenert, S; Lund, AM; Morales-Conejo, M; del Toro-Riera, M; Aldamiz-Echevarria, L; Garcia-Silva, MT; Schiff, M; Gouya, L; Labrune, P; de Lonlay, P; Belmatoug, N; Germain, DP; Cano, A; Dobbelaere, D; Jones, S; Dawson, C; Deegan, P; Santra, S; Vijay, S; Ramadza, DP; Baric, I; Zigman, T; Pflieger, G; Szakszon, K; Kaposta, R; Gasperini, S; Burlina, A; Parenti, G; Strisciuglio, P; Ceccarini, G; Federico, A; Simonati, A; Tumiene, B; Huidekoper, H; van Spronsen, F; Bosch, A; Rubio-Gozalbo, ME; Visser, G; Tangeraas, T; Aarsand, A; Kiec-Wilk, B; Gaspar, AMSM; Quelhas, D; Leao-Teles, E; Azevedo, O; Silva, EMFR; Matos, LMDFD; Martins, E; Lajic, S; Darin, N; Groselj, U; Tansek, MZ
Orphanet journal of rare diseases. 15(1):3
Academic Journal
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Academic Journal
Heard, JM; Bellettato, C; Lingen, C; Scarpa, M; Debray, FG; Nassogne, MC; van Coster, R; De Meirleir, L; Eyskens, F; Morava, E; Baric, I; Kozich, V; Lund, AM; Germain, D; Belmatoug, N; Guffon, N; Labrune, P; Gouya, L; De Lonlay, P; Schiff, M; Dobbelaere, D; Chabrol, B; Ploeckinger, U; Das, AM; Spiekerkoetter, U; Rutsch, F; Mohnike, K; Hahn, A; Kolker, S; Ullrich, K; Hennermann, J; Balogh, I; Bembi, B; Donati, MA; Gasperini, S; Parenti, G; Salviati, A; Vici, CD; Di Rocco, M; Cefalo, G; Burlina, A; Ceccarini, G; Federico, A; Van der Ploeg, A; Rubio-Gozalbo, ME; Van Spronsen, F; Visser, G; Bosch, A; Tangeraas, T; Sanderberg, S; Kiec-Wilk, B; Gaspar, AMSM; Martins, E; Silva, EMFR; Matos, LMDFD; Azevedo, O; Tansek, MZ; Couce-Pico, ML; Cazorla, AG; Azuara, LAE; Del Toro-Riera, M; Silva, MTG; Lajic, S; Darin, N; Deegan, P; Vijay, S; Chronopolou, E; Jones, S; Chakrapani, A; Hiwot, T
Orphanet journal of rare diseases. 14(1):119
Academic Journal
HemaSphere, Vol 6, Pp 809-810 (2022)
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