Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre. by Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin

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Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort by Ula Arkar Silan, Ula Arkar Silan, Ana Trebše, Jernej Kovač, Jernej Kovač, Mihael Rogac, Anja Troha Gergeli, Robert Šket, Tina Bregant, David Neubauer, David Neubauer, Borut Peterlin, Damjan Osredkar, Damjan Osredkar

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An evolutionarily conserved role for CTNNB1/β-CATENIN in regulating the development of the corpus callosum by Arpan Parichha, Debarpita Datta, Amrita Singh, Ishita Talwar, Shreya Yadav, Mahima Bose, Varun Suresh, Špela Miroševič, Nina Žakelj, David Gosar, Damjan Osredkar, Shubha Tole

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Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome by Nina Žakelj, David Gosar, Špela Miroševič, Stephan J. Sanders, Alicia Ljungdahl, Sayeh Kohani, Shouhe Huang, Lok I Leong, Ying An, Miou-Jing Teo, Fiona Moultrie, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Leszek Lisowski, Andrea Perez-Iturralde, Jasna Oražem Mrak, Ho Yin Edwin Chan, Damjan Osredkar

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Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia by Urh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav Tanšek, Špela Miroševič, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem Mrak, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar

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