Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
Rogac, Mihael, Kovanda, Anja, Lovrečić, Luca, Peterlin, Borut
Published in Frontiers in genetics (25.07.2023)
Published in Frontiers in genetics (25.07.2023)
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Journal Article
Assessment of pathogenic variation in gynecologic cancer genes in a national cohort
Kotnik, Urška, Maver, Aleš, Peterlin, Borut, Lovrecic, Luca
Published in Scientific reports (31.03.2023)
Published in Scientific reports (31.03.2023)
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Journal Article
A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6 , GRHL3 , and TBX22
Slavec, Lara, Geršak, Ksenija, Eberlinc, Andreja, Hovnik, Tinka, Lovrečić, Luca, Mlinarič-Raščan, Irena, Karas Kuželički, Nataša
Published in International journal of molecular sciences (21.02.2023)
Published in International journal of molecular sciences (21.02.2023)
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Journal Article
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana
Peterlin, Ana, Bertok, Sara, Writzl, Karin, Lovrečić, Luca, Maver, Aleš, Peterlin, Borut, Debeljak, Maruša, Nosan, Gregor
Published in Life (Basel, Switzerland) (01.09.2024)
Published in Life (Basel, Switzerland) (01.09.2024)
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Journal Article
Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells
Burnik Papler, Tanja, Vrtacnik Bokal, Eda, Maver, Ales, Kopitar, Andreja Natasa, Lovrečić, Luca
Published in PloS one (27.08.2015)
Published in PloS one (27.08.2015)
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Journal Article
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome
Blazina, Štefan, Ihan, Alojz, Lovrečić, Luca, Hovnik, Tinka
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation
Ales, Maver, Luca, Lovrecic, Marija, Volk, Gorazd, Rudolf, Karin, Writzl, Ana, Blatnik, Alenka, Hodzic, Peterlin, Borut
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Journal Article
Expression signature as a biomarker for prenatal diagnosis of trisomy 21
Volk, Marija, Maver, Aleš, Lovrečić, Luca, Juvan, Peter, Peterlin, Borut
Published in PloS one (16.09.2013)
Published in PloS one (16.09.2013)
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Journal Article
Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage
Lovrečić, Luca, Pereza, Nina, Jaklič, Helena, Ostojić, Saša, Peterlin, Borut
Published in Molecular genetics & genomic medicine (01.12.2019)
Published in Molecular genetics & genomic medicine (01.12.2019)
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Journal Article
Specific gene expression differences in cumulus cells as potential biomarkers of pregnancy
Burnik Papler, Tanja, Vrtačnik Bokal, Eda, Maver, Aleš, Lovrečić, Luca
Published in Reproductive biomedicine online (01.04.2015)
Published in Reproductive biomedicine online (01.04.2015)
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Journal Article
Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21
Volk, Marija, Maver, Aleš, Hodžić, Alenka, Lovrečić, Luca, Peterlin, Borut
Published in Omics (Larchmont, N.Y.) (01.10.2017)
Published in Omics (Larchmont, N.Y.) (01.10.2017)
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Journal Article
Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping
Lovrečić, Luca, Rajar, Polona, Volk, Marija, Bertok, Sara, Gnidovec Stražišar, Barbara, Osredkar, Damjan, Jekovec Vrhovšek, Maja, Peterlin, Borut
Published in Journal of applied genetics (01.05.2018)
Published in Journal of applied genetics (01.05.2018)
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Journal Article
Potential protective role of a NOD2 polymorphism in the susceptibility to multiple sclerosis is not associated with interferon therapy
Zeckanovic, Aida, Maver, Ales, Ristic, Smiljana, Cizmarevic, Nada Starcevic, Peterlin, Borut, Lovrecic, Luca
Published in Biomedical reports (01.12.2021)
Published in Biomedical reports (01.12.2021)
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Journal Article
Chronic Lymphocytic Leukemia with Divergent Richter’s Transformation into a Clonally Related Classical Hodgkin’s and Plasmablastic Lymphoma: A Case Report
Gasljevic, Gorana, Grat, Mateja, Kloboves Prevodnik, Veronika, Grcar Kuzmanov, Biljana, Gazic, Barbara, Lovrecic, Luca, Podgornik, Helena
Published in Case reports in oncology (01.01.2020)
Published in Case reports in oncology (01.01.2020)
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Journal Article
Interstitial deletion 2p11.2-p12: Further delineation
Writzl, Karin, Lovrečić, Luca, Peterlin, Borut
Published in American journal of medical genetics. Part A (01.10.2009)
Published in American journal of medical genetics. Part A (01.10.2009)
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Journal Article