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Резултати

The genotypic and phenotypic spectrum of PIGA deficiency [2015]

Tarailo Graovac, Maja ; Sinclair, Graham; Stockler-Ipsiroglu, Sylvia; Van, Allen Margot; Rozmus, Jacob; Shyr, Casper; Biancheri, Roberta; Oh, Tracey; Sayson, Bryan; Lafek, Mirafe;

Ross, Colin J; Robinson, Wendy P; Wasserman, Wyeth W; Rossi, Andrea; van, Karnebeek Clara DM;

Can untreated PKU patients escape from intellectual disability? A systematic review [2018]

van Vliet, Danique; van Wegberg, Annemiek M. J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D.; Casas, Kari; Didycz, Bozena; Đorđević, Maja; Federico, Antonio;

Feillet, Francois; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L.; Hollak, Carla E. M.; Jorgensen, Jens V.; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan O.; Nardecchia, Francesca; Ounap, Katrin; Powell, Kimberly K.; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljković, Maja ; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D.; Hanley, William B.; van Spronsen, Francjan J.;

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease [2018]

Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Manera, Jorge Alberto Diaz; Dogan, Celine;

el Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Bjorn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P.; Perić, Stojan ; Puymirat, Jack; Stojanović, Vidosava ; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; van Engelen, Baziel; Vohanka, Stanislav; Lochmüller, Hanns;

Graves' orbitopathy as a rare disease in Europe: a European Group on Graves' Orbitopathy (EUGOGO) position statement [2017]

Perros, P.; Hegedüs, L.; Bartalena, L.; Marcocci, C.; Kahaly, G. J.; Baldeschi, L.; Salvi, M.; Lazarus, J. H.; Eckstein, A.; Pitz, S.;

Boboridis, K.; Anagnostis, P.; Ayvaz, G.; Boschi, A.; Brix, T. H.; Currò, N.; Konuk, O.; Marinò, M.; Mitchell, A. L.; Stanković, Branislav ; Törüner, F. B.; von Arx, G.; Žarković, Miloš ; Wiersinga, W. M.;

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature [2023]

Potic, Ana D; Perrier, Stefanie; Radovic, Tijana; Gavrilovic, Svetlana; Ostojic, Jelena V ; Tran, Luan T; Thiffault, Isabelle; Pastinen, Tomi; Schiffmann, Raphael; Bernard, Genevieve

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers [2022]

Tylki-Szymanska, Anna; ...; Cuturilo, Goran; Djordjevic, Maja S; ...; (broj, koautora 18)

Management of patients with rare diseases in the Middle East: challenges & opportunities - insights from the Rare Advocacy Council [2026]

Farrugia, Agnes; ...; Zivkovic, Stefan; ...; (broj, koautora 17)

Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study) [2020]

Paller, Amy S.; Browning, John; Nikolić, Miloš MI ; Bodemer, Christine; Murrell, Dedee F.; Lenon, Willistine; Krusinska, Eva; Reha, Allen; Lagast, Hjalmar; Barth, Jay A.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? [2012]

Morimoto, Marie; ...; Bogdanovic, Radovan M; ...; Stajic, Natasa; ...; (broj, koautora 47)

PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic [2021]

Godinas, Laurent; ...; Milutinov-Ilic, Senka; ...; (broj, koautora 17)