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Urh Grošelj

University of Ljubljana

28H指数
164论文数
3.3K被引数
收录论文 62
发表时间
CREB3L3 associated severe hypertriglyceridemia: targeted NGS identification of a novel truncating variant and systematic reviewCREB3L3相关严重高甘油三酯血症:靶向NGS鉴定一种新型截断变异及系统综述
err2026-09-15
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errQuratul Ain; Madeeha Khan; Natalia Azhar; Jaka Sikonja; Muhammad Asim Rana; Saeed Shafi; Barbara Cugalj Kern; Muhammad Iqbal Khan; Muhammad Ajmal; Fouzia Sadiq; Urh Groselj
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Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults平行筛查策略揭示儿童和成人遗传性高胆固醇血症的表型和基因型特征
err2026-09-01
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errSikonja, Jaka; Intihar, Urska; Jug, Borut; Salobir, Neza; Podkrajsek, Katarina Trebusak; Cevc, Matija; Dordevic, Nina; Kafol, Jan; Gorjanc, Tevz; Mlinaric, Matej; Kern, Barbara Cugalj; Kovac, Jernej; Battelino, Tadej; Fras, Zlatko; Groselj, Urh
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Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement儿童和青少年家族性高胆固醇血症:欧洲动脉粥样硬化学会共识声明
err2026-05-25
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errAlbert Wiegman; Mafalda Bourbon; Tomas Freiberger; Samuel S Gidding; Susanne Greber-Platzer; Urh Groselj; Kirsten B Holven; Lisa C Hudgins; Steve E Humphries; Barbara A Hutten; Daiana Ibarretxe; Cristina Pederiva; Noel Peretti; Frederick J Raal; Uma Ramaswami; Veronika Sanin; Raul D Santos; Elisabeth Steinhagen-Thiessen; Gerald F Watts; Rosie Perkins; Marianne Benn; Christoph J Binder; Stefano Romeo; Jeanine E Roeters van Lennep; null
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Persistent sex differences in cardiovascular disease risk factors: a longitudinal cohort study in youth with type 1 diabetes1型糖尿病青少年中心血管疾病风险因素的持续性性别差异:一项纵向队列研究
err2026-04-21
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PREAI
errDarja Šmigoc Schweiger; Zala Mlinarič; Maddalena Macedoni; Elisa Giani; Emil Plesnik; Tinka Hovnik; Primož Kotnik; Klemen Dovč; Nataša Bratina; Tadej Battelino; Urh Grošelj
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Current Status of Newborn Screening in Southeastern and Central Europe东南欧和中欧新生儿筛查的当前状况
err2026-03-03
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errNika Požun; Daša Perko; Violeta Anastasovska; Ivo Barić; Mihail Baša; Tadej Battelino; Iva Bilandžija; Ian Brincat; Miloš Brkušanin; Maja Djordević; Ivanka Dimova; Ana Drole Torkar; Ksenija Fumić; Sergiu Gladun; Panagiotis Girginoudis; Ildikó Szatmári; Ivana Kavečan; Jasmina Katanić; Vjosa Kotori; Nina Marić; Jelena Martić; Olja Manđarelo; Tatjana Milenković; Matej Mlinarič; Florentina Moldovanu; Michaela Nanu; Péter Monostori; Iskra Modeva; Branka Opančina; Dimitris Platis; Maja Raičević; Žiga Iztok Remec; Barbka Repič Lampret; Alexey Savov; Anastasia Skouma; Aleksandar Sovtić; Iva Stoeva; Alma Toromanović; Domen Trampuž; Natalia Usurelu; Jelena Višekruna; Marios Vogazianos; Maximillian Zeyda; Mojca Žerjav Tanšek; Urh Grošelj
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LDLR and APOB Pathogenic Variants Predict Discordant TSH effect on LDL-CLDLR和APOB致病性变异预测TSH对LDL-C的差异性影响
err2026-02-09
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errJan Kafol; Jaka Sikonja; Matej Mlinaric; Barbara Cugalj Kern; Mihaela Pricop-Jeckstadt; Ana Drole Torkar; Tevz Gorjanc; Andraž Petek; Andreja Lakner; Jernej Kovac; Tadej Battelino; Urh Groselj
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Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program斯洛文尼亚家族性高胆固醇血症的儿童-父母级联筛查:试点项目的经验与启示
err2025-11-17
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errJaka Šikonja; Kaja Kobale; Jan Kafol; Barbara Čugalj Kern; Matej Mlinarič; Ana Drole Torkar; Jernej Kovač; Matija Cevc; Zlatko Fras; Tadej Battelino; Urh Grošelj
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Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein-Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders一名出生四日新生儿因线粒体三功能蛋白-长链3-羟酰基辅酶A脱氢酶缺乏症及对脂肪酸氧化障碍所致新生儿早期死亡的系统文献综述
err2025-08-21
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PREAI
errAna Drole Torkar; Ana Klinc; Ziga Iztok Remec; Branislava Rankovic; Klara Bartolj; Sara Bertok; Sara Colja; Vanja Cuk; Marusa Debeljak; Eva Kozjek; Barbka Repic Lampret; Matej Mlinaric; Tinka Mohar Hajnsek; Daša Perko; Katarina Stajer; Tine Tesovnik; Domen Trampuz; Blanka Ulaga; Jernej Kovac; Tadej Battelino; Mojca Zerjav Tansek; Urh Groselj
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International Survey on Phenylketonuria Newborn Screening国际苯丙酮尿症新生儿筛查调查
err2025-08-21
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PREAI
errDomen Trampuž; Peter C. J. I. Schielen; Rolf H. Zetterström; Maurizio Scarpa; François Feillet; Viktor Kožich; Trine Tangeraas; Ana Drole Torkar; Matej Mlinarič; Daša Perko; Žiga Iztok Remec; Barbka Repič Lampret; Tadej Battelino; ISNS Study Group on PKU; Francjan J. van Spronsen; James R. Bonham; Urh Grošelj
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Sex Differences in Cholesterol Levels Among Prepubertal Children青春期前儿童胆固醇水平的性别差异
err2025-08-18
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errJan Kafol; Mia Becker; Barbara Cugalj Kern; Jaka Sikonja; Matej Mlinaric; Katarina Sedej; Matej Kafol; Ana Drole Torkar; Jernej Kovac; Tadej Battelino; Urh Groselj
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Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesity增强型口服葡萄糖耐量试验用于肥胖儿童早期检测胰岛素抵抗和代谢并发症
err2025-06-04
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errUrh Groselj; Jan Kafol; Jaka Sikonja; Matej Mlinaric; Robert Sket; Ziga Iztok Remec; Jernej Kovac; Ana Drole Torkar; Jasna Suput Omladic; Barbka Repic Lampret; Tadej Battelino; Primoz Kotnik
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Dyslipidaemia among children and adolescents in Pakistan: a five-year retrospective cohort study based on laboratory data
err2025-03-22
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errAin, Quratul; Nawaz, Amjad; Khan, Madeeha; Sikonja, Jaka; Batool, Hijab; Zaheer, Rabia; Khan, Mohammad Iqbal; Ajmal, Muhammad; Sadiq, Fouzia; Groselj, Urh
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Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort: Identification of seven new homozygous patients
err2025-03-01
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PREAI
errAin, Quratul; Sikonja, Jaka; Sadiq, Fouzia; Shafi, Saeed; Kafol, Jan; Gorjanc, Tevz; Sustar, Ursa; Kovac, Jernej; Khan, Mohammad Iqbal; Ajmal, Muhammad; Groselj, Urh
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International Survey on Phenylketonuria Newborn Screening
err2025-02-26
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errTrampuz, Domen; Schielen, Peter C. J. I.; Zetterstrom, Rolf H.; Scarpa, Maurizio; Feillet, Francois; Kozich, Viktor; Tangeraas, Trine; Torkar, Ana Drole; Mlinaric, Matej; Perko, Dasa; Remec, Ziga Iztok; Lampret, Barbka Repic; Battelino, Tadej; ISNS Study Grp PKU, Francjan J.; van Spronsen, Francjan J.; Bonham, James R.; Groselj, Urh
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