Clinical utility of array comparative genomic hybridisation in prenatal setting

por Lovrecic, Luca, Remec, Ziga Iztok, Volk, Marija, Rudolf, Gorazd, Writzl, Karin, Peterlin, Borut
Publicado 2016

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program

por Perko, Dasa, Repic Lampret, Barbka, Remec, Ziga Iztok, Zerjav Tansek, Mojca, Drole Torkar, Ana, Krhin, Blaz, Bicek, Ajda, Oblak, Adrijana, Battelino, Tadej, Groselj, Urh
Publicado 2022

Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing

por Lampret, Barbka Repič, Remec, Žiga Iztok, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Šmon, Andraz, Koračin, Vanesa, Čuk, Vanja, Perko, Daša, Ulaga, Blanka, Jelovšek, Ana Marija, Debeljak, Maruša, Kovač, Jernej, Battelino, Tadej, Grošelj, Urh
Publicado 2020

Newborn Screening in a Pandemic—Lessons Learned

por Mlinaric, Matej, Bonham, James R., Kožich, Viktor, Kölker, Stefan, Majek, Ondrej, Battelino, Tadej, Torkar, Ana Drole, Koracin, Vanesa, Perko, Dasa, Remec, Ziga Iztok, Lampret, Barbka Repic, Scarpa, Maurizio, Schielen, Peter C. J. I., Zetterström, Rolf H., Groselj, Urh
Publicado 2023

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

por Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, Groselj, Urh
Publicado 2021

Current Status of Newborn Screening in Southeastern Europe

por Koracin, Vanesa, Mlinaric, Matej, Baric, Ivo, Brincat, Ian, Djordjevic, Maja, Drole Torkar, Ana, Fumic, Ksenija, Kocova, Mirjana, Milenkovic, Tatjana, Moldovanu, Florentina, Mulliqi Kotori, Vjosa, Nanu, Michaela Iuliana, Remec, Ziga Iztok, Repic Lampret, Barbka, Platis, Dimitrios, Savov, Alexey, Samardzic, Mira, Suzic, Biljana, Szatmari, Ildiko, Toromanovic, Alma, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Publicado 2021