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Research outputs

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;

Mowat-Wilson syndrome: growth charts [2020]

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

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease (vol 13, 155, 2018) [2019]

Wood, Libby; ...; Peric, Stojan Z ; ...; Rakocevic-Stojanovic, Vidosava M; ...; (broj, koautora 39)

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)

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