المؤلفون: D’Onofrio, G, Accogli, A, Severino, M, Caliskan, H, Kokotović, T, Blazekovic, A, Jercic, KG, Markovic, S, Zigman, T, Goran, K, Barišić, N, Duranovic, V, Ban, A, Borovecki, F, Ramadža, DP, Barić, I, Fazeli, W, Herkenrath, P, Marini, C, Vittorini, R, Gowda, V, Bouman, A, Rocca, C, Alkhawaja, IA, Murtaza, BN, Rehman, MMU, Al Alam, C, Nader, G, Mancardi, MM, Giacomini, T, Srivastava, S, Alvi, JR, Tomoum, H, Matricardi, S, Iacomino, M, Riva, A, Scala, M, Madia, F, Pistorio, A, Salpietro, V, Minetti, C, Rivière, JB, Srour, M, Efthymiou, S, Maroofian, R, Houlden, H, Vernes, SC, Zara, F, Striano, P, Nagy, V

المصدر: Human Genetics (2023) (In press).

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10170801Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10170801Test/

المؤلفون: 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, Kölker S, Weinhold N, Mohnike K, Gruenert S, Lund AM, Morales-Conejo M, Del Toro-Riera M, Aldámiz-Echevarría L, Garcia-Silva MT, Schiff M, Gouya L, de Lonlay P, Belmatoug N, Germain DP, Cano A, Dobbelaere D, Jones S, Dawson C, Deegan P, Santra S, Vijay S, Petkovic Ramadza D, Barić I, Žigman 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, Kieć-Wilk B, Mendes Gaspar AS, Quelhas D, Leao-Teles E, Azevedo O, Rodriges Silva EF, de Abreu Freire Diogo Matos LM, Martins E, Lajic S, Darin N, Groselj U, Tansek MZ.

المساهمون: 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, Kölker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, Am, Morales-Conejo, M, Del Toro-Riera, M, Aldámiz-Echevarría, L, Garcia-Silva, Mt, Schiff, M, Gouya, L, de Lonlay, P, Belmatoug, N, Germain, Dp, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Petkovic Ramadza, D, Barić, I, Žigman, 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, Kieć-Wilk, B, Mendes Gaspar, A, Quelhas, D, Leao-Teles, E, Azevedo, O, Rodriges Silva, Ef, de Abreu Freire Diogo Matos, Lm, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, Mz.

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31907071; info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11568/1022303Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5Test

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://hdl.handle.net/11568/1022303Test

المؤلفون: Šikić, K., Peters, T.M.A., Marušić, E., Čagalj, I.Č., Ramadža, D.P., Žigman, T., Fumić, K., Fernandez, E., Gevaert, K., Debeljak, Ž., Wevers, R.A., Barić, I.

المصدر: Journal of Inherited Metabolic Disease, 45, 6, pp. 1048-1058

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/287629Test

الإتاحة: https://doi.org/10.1002/jimd.12549Test
https://repository.ubn.ru.nl/handle/2066/287629Test

المؤلفون: Žigman, T., Šikić, K., Petković Ramadža, D., Mayr, J., Wortmann, S., Prokisch, H., Ninković, D., Dilber, D., Šarić, D., Rubić, F., Galić, S., Slaviček, J., Belina, D., Fumić, K., Barić, I.

المصدر: J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)

مصطلحات موضوعية: Atp Synthase Deficiency, Hemodialysis, Hyperammonemia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33180048; info:eu-repo/semantics/altIdentifier/wos/WOS:000626416000014; info:eu-repo/semantics/altIdentifier/isbn/0334-018X; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60606Test; urn:isbn:0334-018X; urn:issn:0334-018X; urn:issn:2191-0251

الإتاحة: https://doi.org/10.1515/jpem-2020-0396Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60606Test

المؤلفون: Cvitanovic-Sojat, L, Malenica, M, Kukuruzovic, M, Zigman, T, Kuznik, K, Tein, I, Seneca, S, Lissens, W, Van Coster, R, Lamhonwah, AM, De Meirleir, L

المصدر: European Journal of Paediatric Neurology ; volume 17, page S131-S132 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(13)70463-x
https://api.elsevier.com/content/article/PII:S109037981370463X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109037981370463X?httpAccept=text/plainTest

المؤلفون: Zakanj, Zora, Žigman T, Rajačić N, Crnković M, Požgaj Šepec M, Čelić I, Krmek N, Kukuruzović M, Maloča I.

مصطلحات موضوعية: specijalizacija, pedijatrija

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::ad2b42a6f59c2fefbb8738bd3ef440b1Test
https://www.bib.irb.hr/464700Test

المؤلفون: Bence-Zigman, Z, Dodig, D, Zigman, T, Zarkovic, T

المصدر: Ultraschall in der Medizin - European Journal of Ultrasound ; volume 26, issue S 1 ; ISSN 0172-4614 1438-8782

الإتاحة: https://doi.org/10.1055/s-2005-917414Test