학술논문
'학술논문'
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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
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
In Toxicon November 2022 219
Academic Journal
Academic Journal
Jan Václavík; Lucie Mádrová; Štěpán Kouřil; Julie de Sousa; Radana Brumarová; Hana Janečková; Jaroslava Jáčová; David Friedecký; Mária Knapková; Leo A. J. Kluijtmans; Sarah C. Grünert; Frédéric M. Vaz; Nils Janzen; Ronald J. A. Wanders; Ron A. Wevers; Tomáš Adam
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
Academic Journal
In: Statistika . (Statistika, 2024, 104(2):119-134)
Academic Journal
Surgical Review / Rozhledy v Chirurgii; Mar2023, Vol. 102 Issue 3, p111-118, 8p
Academic Journal
Saho R; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia.; Faculty of Medicine, Comenius University, Bratislava, Slovakia.; Dolzan V; Faculty of Medicine, Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Ljubljana, Slovenia.; Zerjav Tansek M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Pastorakova A; Genetics and Clinical Genetics, Faculty of Medicine, Institute of Medical Biology, Comenius University, Bratislava, Slovakia.; Petrovic R; Genetics and Clinical Genetics, Faculty of Medicine, Institute of Medical Biology, Comenius University, Bratislava, Slovakia.; Knapkova M; Neonatal Screening Centre (NSC) of SR Banská Bystrica, Children University Hospital (CHUH), Banská Bystrica, Slovakia.; Trebusak Podkrajsek K; Faculty of Medicine, Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Suput Omladic J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Bertok S; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Avbelj Stefanija M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Kotnik P; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Battelino T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Pribilincova Z; Department of Pediatrics, Faculty of Medicine, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia.; Groselj U; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Academic Journal
Skalický, P.; Tesaříková, J.; Gregořík, M.; Knápková, K.; Švébišová, H.; Kurfúrstová, D.; Klos, D.; Loveček, M.
Surgical Review / Rozhledy v Chirurgii; 2022, Vol. 101 Issue 9, p436-442, 7p
Academic Journal
Munck, A.; Berger, D.O.; Southern, K.W.; Carducci, C.; de Winter-de Groot, K.M.; Gartner, S.; Kashirskaya, N.; Linnane, B.; Proesmans, M.; Sands, D.; Sommerburg, O.; Castellani, C.; Barben, J.; Renner, S.; Zeyda, M.; de Wachter, E.; Regal, L.; Votava, F.; Holubova, A.; Skov, M.; Morgan, T.; Bregeaut, P.; O'Grady, L.; Bucci, I.; Pantano, S.; Simonetti, S.; De Venuto, D.; Salvatore, D.; Perrotti, N.; Caloiero, M.; Castaldo, G.; Tosco, A.; Righetti, F.; Pisi, G.; Battistini, F.; Angeloni, A.; Cimino, G.; Fiocchi, G.; Angiolillo, A.; Cassanello, M.; Alberti, L.; Claut, L.E.; Badolato, R.; Pavanello, E.; Fabrizzi, B.; Bignamini, E.; Cardillo, A.; Lombardo, M.; Cocciadiferro, L.; Termini, L.; Dolce, D.; Terlizzi, V.; Tamanini, A.; Pauro, F.; la Marca, G.; Aleksejeva, E.; Gaidule-Logina, D.; Fustik, S.; Anastasovska, V.; Bouva, M.; Reid, A.; Cundick, J.; Lundman, E.; Bakkeheim, E.; Zybert, K.; Oltarzewski, M.; Vilarinho, L.; Sherman, V.; Kondratyeva, E.; Smith, S.; Dautovic, G.V.; Knapkova, M.; Mydlova, Z.; López, R.M.; Velasco, V.; Flores, F.D.; Mejeras, C.C.; Pedersen, E.S.; Ozcelik, U.; Karadag, B.; Makukh, H.; Stuart, M.
In: Journal of Cystic Fibrosis . (Journal of Cystic Fibrosis, May 2023, 22(3):484-495)
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