A New Case of an Extremely Rare 3p21.31 Interstitial Deletion

Por Lovrecic, Luca, Bertok, Sara, Žerjav Tanšek, Mojca
Publicado no Mol Syndromol (2016)

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

Por Nosan, Gregor, Bertok, Sara, Vesel, Samo, Yntema, Helger G., Paro-Panjan, Darja
Publicado em 2013

Título não disponível

Por Nosan, Gregor, Bertok, Sara, Vesel, Samo, Yntema, Helger G., Paro-Panjan, Darja
Publicado em 2014

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

Por Stavber, Lana, Bertok, Sara, Kovač, Jernej, Volk, Marija, Lovrečić, Luca, Battelino, Tadej, Hovnik, Tinka
Publicado no Mol Cytogenet (2017)

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V

Por BRATANIC, Nina, DZODAN, Bojana, TREBUSAK PODKRAJSEK, Katarina, BERTOK, Sara, OSTANEK, Barbara, MARC, Janja, BATTELINO, Tadej, AVBELJ STEFANIJA, Magdalena
Publicado no Zdr Varst (2015)

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

Por BERTOK, Sara, ŽERJAV TANŠEK, Mojca, KOTNIK, Primož, BATTELINO, Tadej, VOLK, Marija, PECILE, Vanna, CLEVA, Lisa, GASPARINI, Paolo, KOVAČ, Jernej, HOVNIK, Tinka
Publicado no Zdr Varst (2015)

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

Por Cini, Giulia, Mezzavilla, Massimo, Della Puppa, Lara, Cupelli, Elisa, Fornasin, Alessio, D’Elia, Angela Valentina, Dolcetti, Riccardo, Damante, Giuseppe, Bertok, Sara, Miolo, Gianmaria, Maestro, Roberta, de Paoli, Paolo, Amoroso, Antonio, Viel, Alessandra
Publicado no BMC Med Genet (2016)

Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci

Por Bisceglia, Luigi , Cerullo, Giuseppina , Forabosco, Paola , Torres, Diletta Domenica , Scolari, Francesco , Di Perna, Michele , Foramitti, Marina , Amoroso, Antonio , Bertok, Sara , Floege, Jürgen , Mertens, Peter Rene , Zerres, Klaus , Alexopoulos, Efstathios , Kirmizis, Dimitrios , Ermelinda, Mazzucco , Zelante, Leopoldo , Schena, Francesco Paolo 
Publicado em 2006