Search Results - Borut Peterlin

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  1. 1

    Genealoška rekonstrukcija miotonične distrofije u Istri: Efekt osnivača u župi Svetvinčenat by Ivan Medica, Slavica Piljan, Borut Peterlin

    Published in Vjesnik Istarskog Arhiva (2001-02-01)
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  2. 2

    POLYMORPHISMS OF DOPAMINE RECEPTORS IN PATIENTS WITH RETINITIS PIGMENTOSA by Melita T. Kermavnar, Borut Peterlin, Marko Hawlina

    Published in Zdravniški Vestnik (2002-12-01)
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  3. 3

    Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders by Gaber Bergant, Aleš Maver, Borut Peterlin

    Published in Life (2021-03-01)
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  4. 4

    THE MOST FREQUENT TYPES OF DEMYELINATIVE CHARCOT-MARIE-TOOTH DISEASE IN SLOVENIA: A POPULATION-BASED STUDY by Lea Leonardis, Janez Zidar, Borut Peterlin

    Published in Zdravniški Vestnik (2003-10-01)
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  5. 5

    Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines by Urska Kotnik, Borut Peterlin, Luca Lovrecic

    Published in BMC Cancer (2021-06-01)
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  6. 6

    Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge by Mihael Rogac, Mihael Rogac, Anja Kovanda, Anja Kovanda, Luca Lovrečić, Luca Lovrečić, Borut Peterlin, Borut Peterlin

    Published in Frontiers in Genetics (2023-07-01)
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  7. 7

    Increasing Genomic Literacy Through National Genomic Projects by Ana Nyasha Zimani, Borut Peterlin, Anja Kovanda

    Published in Frontiers in Genetics (2021-08-01)
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  8. 8

    Assessment of pathogenic variation in gynecologic cancer genes in a national cohort by Urška Kotnik, Aleš Maver, Borut Peterlin, Luca Lovrecic

    Published in Scientific Reports (2023-03-01)
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  9. 9

    TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients by Nina Vodnjov, Andraž Cerar, Aleš Maver, Borut Peterlin, Karin Writzl

    Published in Orphanet Journal of Rare Diseases (2025-02-01)
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  10. 10

    Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage by Luca Lovrečić, Nina Pereza, Helena Jaklič, Saša Ostojić, Borut Peterlin

    Published in Molecular Genetics & Genomic Medicine (2019-12-01)
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  11. 11

    Oral microbiome and preterm birth by Marijana Vidmar Šimic, Aleš Maver, Aleš Maver, Ana Nyasha Zimani, Keli Hočevar, Borut Peterlin, Borut Peterlin, Anja Kovanda, Anja Kovanda, Tanja Premru-Sršen, Tanja Premru-Sršen

    Published in Frontiers in Medicine (2023-08-01)
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  12. 12

    Transcriptomic signatures for human male infertility by Alenka Hodžić, Aleš Maver, Branko Zorn, Daniel Petrovič, Tanja Kunej, Borut Peterlin

    Published in Frontiers in Molecular Biosciences (2023-08-01)
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  13. 13

    Association of Circadian Rhythm with Myocardial Infarction by Ivana Škrlec, Jakov Milić, Marija Heffer, Robert Steiner, Borut Peterlin, Jasenka Wagner

    Published in Acta Clinica Croatica (2018-01-01)
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  14. 14

    Nutraceutical Approaches of Autophagy and Neuroinflammation in Alzheimer’s Disease: A Systematic Review by Reinhard Gruendler, Berit Hippe, Vesna Sendula Jengic, Borut Peterlin, Alexander G. Haslberger

    Published in Molecules (2020-12-01)
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  15. 15

    Unraveling the complexity of skeletal dysplasias in the national health system by Dorra Najjar, Dorra Najjar, Aleš Maver, Ana Peterlin, Helena Jaklič, Borut Peterlin

    Published in Frontiers in Endocrinology (2025-03-01)
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  16. 16

    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

    Published in PLoS ONE (2021-01-01)
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  17. 17

    Editorial: The Importance of Genetic Literacy and Education in Medicine by Nina Pereza, Nina Pereza, Borut Peterlin, Saša Ostojić, Saša Ostojić, Željka Poslon, Željka Poslon

    Published in Frontiers in Genetics (2022-04-01)
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  18. 18

    Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder by Karin Writzl, Karin Writzl, Blaž Mavčič, Blaž Mavčič, Aleš Maver, Aleš Maver, Alenka Hodžić, Borut Peterlin

    Published in Frontiers in Genetics (2023-07-01)
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  19. 19

    The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana by Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan

    Published in Life (2024-09-01)
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  20. 20

    Disease Progression in <i>CNGA3</i> and <i>CNGB3</i> Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies by Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin

    Published in Current Issues in Molecular Biology (2021-08-01)
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