Pretraga

Rezultati

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)

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness [2017]

J. K; A. Topf; M. Bertoli; Philips L; Claeys K; Stojanović, Vidosava M. ; Perić, Stojan Z. ; A. Hahn; Maddison P; L. Xu

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism [2017]

Badiu, Corin; Bonomi, Marco; Borshchevsky, Ivan; Cools, Martine; Craen, Margarita; Ghervan, Cristina; Hauschild, Michael; Hershkovitz, Eli; Hrabovszky, Erik; Juul, Anders;

Kim, Soo-Hyun; Kumanov, Phillip; Lecumberri, Beatriz; Lemos, Manuel C.; Neocleous, Vassos; Niedziela, Marek; Djurdjevic, Sandra Pekic; Persani, Luca; Phan-Hug, Franziska; Pignatelli, Duarte; Pitteloud, Nelly; Popović, Vera ; Quinton, Richard; Skordis, Nicos; Smith, Neil; Stefanija, Magdalena Avbelj; Xu, Cheng; Young, Jacques; Dwyer, Andrew A.;

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

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;

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries [2015]

Zerjav, Tansek Mojca; Groselj, Urh; Angelkova, Natalija; Anton, Dana; Baric, Ivo; Djordjevic, Maja; Grimci, Lindita; Ivanova, Maria; Kadam, Adil; Kotori, Vjosa;

Maksic, Hajrija; Marginean, Oana; Margineanu, Otilia; Miljanovic, Olivera; Moldovanu, Florentina; Muresan, Mariana; Nanu, Michaela; Samardzic, Mira; Sarnavka, Vladimir; Savov, Aleksei; Stojiljković, Maja ; Suzic, Biljana; Tincheva, Radka; Tahirovic, Husref; Toromanovic, Alma; Usurelu, Natalia; Battelino, Tadej;

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.;