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1دورية أكاديمية
المؤلفون: Tinka Hovnik, Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Katarina Trebušak Podkrajšek
المصدر: Acta Chimica Slovenica, Vol 68, Iss 3, Pp 683-692 (2021)
مصطلحات موضوعية: oculocutaneous albinism, hermansky-pudlak syndrome type 1, next generation sequencing, genetic variant, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://journals.matheo.si/index.php/ACSi/article/view/6690Test; https://doaj.org/toc/1318-0207Test; https://doaj.org/toc/1580-3155Test
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2دورية أكاديمية
المؤلفون: Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tinka Hovnik
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: cholesterol ester storage disease, CESD, lysosomal acid lipase deficiency, LAL-D, LIPA gene, hypercholesterolemia, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.936121/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Lara Slavec, Ksenija Geršak, Andreja Eberlinc, Tinka Hovnik, Luca Lovrečić, Irena Mlinarič-Raščan, Nataša Karas Kuželički
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 5, p 4262 (2023)
مصطلحات موضوعية: genetics, family study, non-syndromic orofacial cleft, Van der Woude syndrome, X-linked cleft palate with or without ankyloglossia, IRF6, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/24/5/4262Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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4دورية أكاديمية
المؤلفون: Lana Stavber, Maria Joao Gaia, Tinka Hovnik, Barbara Jenko Bizjan, Maruša Debeljak, Jernej Kovač, Jasna Šuput Omladič, Tadej Battelino, Primož Kotnik, Klemen Dovč
المصدر: Genes, Vol 13, Iss 6, p 1065 (2022)
مصطلحات موضوعية: short stature, NPR2 gene, small for gestational age, growth hormone therapy, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Tinka Hovnik, Eva Zitnik, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Sedej, Vesna Bancic Silva, Tadej Battelino, Urh Groselj
المصدر: Genes, Vol 13, Iss 5, p 744 (2022)
مصطلحات موضوعية: Klinefelter syndrome, mosaicism, 47,XXY/46,XX, review, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Jera Stritar, Lana Stavber, Maja Ficko, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Tinka Hovnik
المصدر: Genes, Vol 12, Iss 10, p 1546 (2021)
مصطلحات موضوعية: height, short stature, SHOX, MLPA, Sanger sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Darja Smigoc Schweiger, Katja Goricar, Tinka Hovnik, Andrijana Mendez, Natasa Bratina, Jernej Brecelj, Blanka Vidan-Jeras, Tadej Battelino, Vita Dolzan
المصدر: Frontiers in Pediatrics, Vol 7 (2019)
مصطلحات موضوعية: inflammasome, NLRP3, CARD8, PTPN22, type 1 diabetes, celiac disease, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fped.2019.00063/fullTest; https://doaj.org/toc/2296-2360Test
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8دورية أكاديمية
المؤلفون: Urh Grošelj, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Tinka Hovnik, Tadej Battelino, Vita Dolžan
المصدر: Acta Chimica Slovenica, Vol 63, Iss 1, Pp 33-37 (2016)
مصطلحات موضوعية: CYP2C19, CYP21A2, 21-hydroxylase deficiency, congenital adrenal hyperplasia, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://journals.matheo.si/index.php/ACSi/article/view/1797Test; https://doaj.org/toc/1318-0207Test; https://doaj.org/toc/1580-3155Test
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9
المؤلفون: Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Tinka Hovnik, Katarina Trebušak Podkrajšek
المصدر: Acta Chimica Slovenica, Vol 68, Iss 3, Pp 683-692 (2021)
مصطلحات موضوعية: Adult, Male, genetic variant, medicine.medical_specialty, SLC45A2, Adolescent, Slovenia, Cohort Studies, Young Adult, Genotype, Humans, Medicine, Genetic Testing, TYRP1, Genetic variability, Child, QD1-999, General Environmental Science, next generation sequencing, biology, business.industry, Genetic variants, Genetic Variation, High-Throughput Nucleotide Sequencing, medicine.disease, Oculocutaneous albinism, Dermatology, Phenotype, eye diseases, Chemistry, Albinism, Oculocutaneous, hermansky-pudlak syndrome type 1, Child, Preschool, Cohort, biology.protein, General Earth and Planetary Sciences, Female, business, oculocutaneous albinism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a967814f77643b247ae2d65a35956ac2Test
https://doi.org/10.17344/acsi.2021.6690Test -
10
المؤلفون: Lana, Stavber, Maria Joao, Gaia, Tinka, Hovnik, Barbara, Jenko Bizjan, Maruša, Debeljak, Jernej, Kovač, Jasna Šuput, Omladič, Tadej, Battelino, Primož, Kotnik, Klemen, Dovč
المصدر: Genes. 13(6)
مصطلحات موضوعية: Heterozygote, Adolescent, Infant, Small for Gestational Age, Infant, Newborn, High-Throughput Nucleotide Sequencing, Humans, Dwarfism, Child, Receptors, Atrial Natriuretic Factor, Body Height
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6ed35cadffb5758c119cc499092156eeTest
https://pubmed.ncbi.nlm.nih.gov/35741827Test