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Резултати

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;

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)

Mowat-Wilson syndrome: growth charts [2020]

Ivanovski, Ivan P ; Djuric, Olivera S; ...; Cuturilo, Goran; ...; Kuburovic, Vladimir; ...; (broj, koautora 53)

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease [2019]

Wood, Libby; ...; Perić, Stojan Z. ; ...; Rakočević-Stojanović, Vidosava M. ; ...; (broj koautora 39)

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;

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;

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

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

Johnson, Katherine; Töpf, Ana; Bertoli, Marta; Phillips, Lauren; Claeys, Kristl G.; Stojanović-Rakočević, Vidosava ; Perić, Stojan Z. ; Hahn, Andreas; Maddison, Paul; Akay, Ela;

Bastian, Alexandra E.; Łusakowska, Anna; Kostera-Pruszczyk, Anna; Lek, Monkol; Xu, Liwen; MacArthur, Daniel G.; Straub, Volker;

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.;

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)