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1. A comprehensive genetic analysis of Slovenian families with multiple cases of orofacial clefts reveals novel variants in the genes IRF6, GRHL3, and TBX22
Lara Slavec, Ksenija Geršak, Andreja Eberlinc, Tinka Hovnik, Luca Lovrečić, Irena Mlinarič-Raščan, Nataša Karas Kuželički, 2023, original scientific article

Keywords: genetics, family study, non-syndromic orofacial cleft, Van der Woude syndrome, X-linked cleft palate with or without ankyloglossia, IRF6, GRHL3, TBX22, whole exome sequencing
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2. Analiza subtelomernih preureditev pri otrocih in mladostnikih z razvojnim zaostankom in idiopatsko duševno manjrazvitostjo
Maja Ficko, 2013, master's thesis

Keywords: duševna manjrazvitost, telomeri, etiologija duševne manjrazvitosti, kariotipizacija, diagnostika, fluorescenčna in situ hibridizacija
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3. Analiza sprememb v genu LIPA pri bolnikih s sumom na bolezen kopičenja holesterolnih estrov
Simona Geder, 2018, master's thesis

Keywords: lizosomska kisla baza, gen LIPA, bolezen kopičenja holesterolnih estrov, analiza gena LIPA, genetska diagnostika, holesterol
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4. Detection of del/dup inside SHOX/PAR1 region in children and young adults with idiopathic short stature
Jera Stritar, Lana Stavber, Maja Ficko, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Tinka Hovnik, 2021, original scientific article

Keywords: idiopathic short stature, Sanger sequencing, children and young adults, height, short stature, SHOX, MLPA
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5. Association of glycemic control and cell stress with telomere attrition in type 1 diabetes
Tine Tesovnik, Jernej Kovač, Tinka Hovnik, Klemen Dovč, Nataša Bratina, Tadej Battelino, Katarina Trebušak Podkrajšek, 2018, other scientific articles

Keywords: hyperglycemia, abnormal blood glucose level, oxidative stress, type 1 diabetes
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6. Primerjava parametrov osnovne urinske analize z uporabo dveh analitskih sistemov
Jan Bakija, 2022, undergraduate thesis

Keywords: osnovna urinska analiza, avtomatski analizator, primerjava metod, mikroskopiranje
Full text (file, 596,70 KB)

7. Optimizacija hkratne detekcije genotipov iz neonatalnega vzorca krvnega madeža za namene presejalnega testiranja
Mojca Zafran, 2023, master's thesis

Keywords: presejalno testiranje novorojencev, spinalna mišična atrofija, hudo kombinirana imunska pomanjkljivost, posušen krvni madež, test, qPCR reakcija, markerji, detekcija
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8. Analiza sprememb v številu kopij gena NF1 z od ligacije odvisnim hkratnim pomnoževanjem sond pri bolnikih s kliničnim sumom na nevrofibromatozo tipa 1
Meta Gartner, 2021, master's thesis/paper

Keywords: nevrofibromatoza tipa 1, MLPA, gen NF1, CNVkit
Full text (file, 2,98 MB)

9. Analiza genetskih različic v regulatornih in kodirajočih področjih gena SHOX pri otrocih z nepojasnjeno nizko rastjo
Jera Stritar, 2020, master's thesis/paper

Keywords: Nepojasnjena nizka rast, sekvenciranje po Sangerju, MLPA, gen SHOX.
Full text (file, 3,98 MB)

10. Analiza sprememb v številu kopij genov, povezanih s hipogonadotropnim hipogonadizmom, z od ligacije odvisnim hkratnim pomnoževanjem sond
Špela Zlodej, 2024, master's thesis/paper

Keywords: hipogonadotropni hipogonadizem, Kallmannov sindrom, MLPA, gen ANOS1, nova genetska sprememba
Full text (file, 1,28 MB)

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