Pretraga

Rezultati

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.;

Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study [2020]

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

Involvement of mental health professionals in the treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey [2021]

Waltereit, Robert; Beaure D Augeres, Guillaume; Jančić, Jasna B. ; Kingswood, John Chris; Koleva, Maya; Marques, Ruben; Villanueva, Vicente; Auvin, Stephane

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.;

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;

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)

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)

Systematic review of central nervous system anomalies in incontinentia pigmenti [2013]

Minić, Snežana ; Trpinac, Dušan ; Obradović, Miljana

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms [2015]

Sirrs, Sandra; van, Karnebeek Clara DM; Peng, Xiaoxue; Shyr, Casper; Tarailo Graovac, Maja ; Mandal, Rupasri; Testa, Daniel; Dubin, Devin; Carbonetti, Gregory; Glynn, Steven E;

Sayson, Bryan; Robinson, Wendy P; Han, Beomsoo; Wishart, David; Ross, Colin J; Wasserman, Wyeth W; Hurwitz, Trevor A; Sinclair, Graham; Kaczocha, Martin;