GENETIC APPROACH IN THE DIAGNOSIS OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT by Katja Jarc Georgiev, Matjaž Kopač, Sara Bertok

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GENETSKO DIAGNOSTICIRANJE PRIROJENIH NEPRAVILNOSTI SEČIL by Katja Jarc Georgiev, Matjaž Kopač, Sara Bertok

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INFANTILNA KORTIKALNA HIPEROSTOZA by Nika Morgan, Sara Bertok, Damjana Ključevšek, Karin Schara, Jana Lozar Krivec

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INFANTILE CORTICAL HYPEROSTOSIS by Nika Morgan, Sara Bertok, Damjana Ključevšek, Karin Schara, Jana Lozar Krivec

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DENTAL ENAMEL HYPOPLASIA AS A PRESENTING SIGN OF AUTOIMMUNE POLYENDOCRINOPATHY WITH CANDIDIASIS-ECTODERMAL DYSTROPHY - A CASE REPORT by Lea Regoršek Vrabec, Tina Leban, Katarina Trebušak Podkrajšek, Nataša Bratina, Sara Bertok, Alenka Pavlič, Magdalena Avbelj Stefanija

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HIPOPLAZIJA SKLENINE KOT ZNAK AVTOIMUNSKE POLIENDOKRINOPATIJE-KANDIDIAZE-EKTODERMALNE DISTROFIJE − PRIKAZ KLINIČNEGA PRIMERA by Lea Regoršek Vrabec, Tina Leban, Katarina Trebušak Podkrajšek, Nataša Bratina, Sara Bertok, Alenka Pavlič, Magdalena Avbelj Stefanija

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An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature by Tinka Hovnik, Eva Zitnik, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Sedej, Vesna Bancic Silva, Tadej Battelino, Urh Groselj

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Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature rev... by Neza Molk, Mojca Bitenc, Darja Urlep, Darja Urlep, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Sara Bertok, Sara Bertok, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Ursa Sustar, Ursa Sustar, Jernej Kovac, Jernej Kovac, Tadej Battelino, Tadej Battelino, Marusa Debeljak, Marusa Debeljak, Urh Groselj, Urh Groselj

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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel mutations identified in a retrospective screening by Andraz Smon, Urh Groselj, Marusa Debeljak, Mojca Zerjav Tansek, Sara Bertok, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Tadej Battelino, Barbka Repic Lampret

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Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient by Ana Drole Torkar, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek, Maruša Debeljak, Branislava Stirn Kranjc, Branislava Stirn Kranjc, Tadej Battelino, Tadej Battelino, Primož Kotnik, Primož Kotnik

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Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review by Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj

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Long-Term Follow-Up of Three Family Members with a Novel <i>NNT</i> Pathogenic Variant Causing Primary Adrenal Insufficiency by Tjasa Krasovec, Jaka Sikonja, Mojca Zerjav Tansek, Marusa Debeljak, Sasa Ilovar, Katarina Trebusak Podkrajsek, Sara Bertok, Tine Tesovnik, Jernej Kovac, Jasna Suput Omladic, Michaela F. Hartmann, Stefan A. Wudy, Magdalena Avbelj Stefanija, Tadej Battelino, Primoz Kotnik, Urh Groselj

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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxyla... by Robert Saho, Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija, Primoz Kotnik, Primoz Kotnik, Tadej Battelino, Tadej Battelino, Zuzana Pribilincova, Urh Groselj, Urh Groselj

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