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발행년	- (예 : 2010-2015)

전체선택

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Academic Journal

Falkenberg, KD; Braverman, NE; Moser, AB; Steinberg, SJ; Klouwer, FCC; Schluter, A; Ruiz, M; Pujol, A; Engvall, M; Naess, K; van Spronsen, F; Korver-Keularts, I; Rubio-Gozalbo, ME; Ferdinandusse, S; Wanders, RJA; Waterham, HR

American journal of human genetics. 101(6):965-976

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (SwePub) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

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

EBSCOHost PDF Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Open Access (SwePub) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Research activity and capability in the European reference network MetabERN

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

EBSCOHost PDF Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Open Access (SwePub) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Electronic Resource

Haijes, HA; Molema, F; Langeveld, M; Janssen, M; Bosch, A; van Spronsen, F; Mulder, MF (Margot); Verhoeven-Duif, NM; Jans, JJM; van der Ploeg, Ans; Wagenmakers, Margreet; Rubio-Gozalbo, ME; Brouwers, M; de Vries, MC; Langendonk, Janneke; Williams, Monique; van Hasselt, PM

Haijes , HA , Molema , F , Langeveld , M , Janssen , M , Bosch , A , van Spronsen , F , Mulder , MF , Verhoeven-Duif , NM , Jans , JJM , van der Ploeg , A , Wagenmakers , M , Rubio-Gozalbo , ME , Brouwers , M , de Vries , MC , Langendonk , J , Williams , M & van Hasselt , PM 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 .

Open Access (OAIster)

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