Претрага

Резултати

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire [2022]

Gruenert, Sarah C; ...; Djordjevic-Milosevic, Maja; ...; Kecman, Bozica; ...; (broj, koautora 64)

The genomic and clinical landscape of fetal akinesia [2020]

Pergande, Matthias; ...; Ostojic, Slavica; ...; (broj, koautora 31)

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants [2018]

Xu, Cheng; Cassatella, Daniele; van, der Sloot Almer M.; Quinton, Richard; Hauschild, Michael; De, Geyter Christian; Flück, Christa; Feller, Katrin; Bartholdi, Deborah; Nemeth, Attila;

Halperin, Irene; Đurđević, Sandra ; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew A.; Marino, Laura; Favre, Lucie; Pignatelli, Duarte; Niederländer, Nicolas J.; Acierno, James; Pitteloud, Nelly;

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders [2017]

Tarailo-Graovac, Maja; Zhu, Jing Yun Alice; Matthews, Allison; van, Karnebeek Clara DM; Wasserman, Wyeth W

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care [2018]

Ivanovski, Ivan ; Đurić, Olivera ; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P.;

Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De, Brasi Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo, Rizzo Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S.; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W.; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Te, Valera Elvis rci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia;

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases [2018]

Bergant, Gaber; Maver, Ales; Lovrecic, Luca; Čuturilo, Goran ; Hodzic, Alenka; Peterlin, Borut

Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations [2018]

Di, Marco Marco; D'Andrea, Elvira; Panic, Nikola; Baccolini, Valentina; Migliara, Giuseppe; Marzuillo, Carolina; De, Vito Corrado; Pastorino, Roberta; Boccia, Stefania; Villari, Paolo

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome [2022]

Van, der Spek Jet; ...; Cuturilo, Goran; ...; (broj, koautora 46)