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Borut Peterlin

university medical centre ljubljana

45H指数
470论文数
8.5K被引数
收录论文 92
发表时间
Rare-Variant Burden in Mitochondrial Parkinson's Disease线粒体帕金森病中的罕见变异负担
err2026-09-08
err0
PREAI
errMartin Rakusa MD, PhD; Gaber Bergant MD, PhD; Borut Peterlin MD, PhD
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Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study三级医疗系统中下一代测序的临床应用:里耶卡回顾性研究
err2026-09-02
err0
errOAAI
errNP Nina Pereza; SD Sanja Dević Pavlić; TM Tea Mladenić; ŽH Željka Hrupački; DV Dorotea Vukelić Drašković; LL Luca Lovrečić; AM Aleš Maver; JV Jadranka Vraneković; IB Iva Bilić Čače; IP Igor Prpić; IB Ivona Butorac Ahel; VV Vladimira Vuletić; KB Koraljka Benko; TČ Tea Čaljkušić Mance; MK Marko Klarić; NS Nada Starčević Čizmarević; IB Ivana Babić Božović; GH Goran Hauser; AR Alen Ružić; SO Saša Ostojić; BP Borut Peterlin
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Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases
err2026-07-28
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errOAAI
errAleš Maver; Katja Lohmann; Lena-Marie Urbanczyk; Astri Arnesen; Ivo Barić; Peter Bauer; Kailash P. Bhatia; Sylvia Boesch; Fran Borovečki; Norbert Brüggemann; Zih-Hua Fang; Heinz Gabriel; Tobias B. Haack; Henry Houlden; Milena Janković; Erik-Jan Kamsteeg; Michelangelo Mancuso; Deborah Mascalzoni; Maria Judit Molnar; Alexander Münchau; Kornelia Neveling; Ivana Novaković; Borut Peterlin; Ludger Schols; Nika Schuermans; Katie Shiels; Marc Sturm; Rachel Taylor; Marina A. J. Tijssen; Lisenka E. L. M. Vissers; Victoria Williams; Holm Graessner
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Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy显性视神经萎缩中PHB1作为新型候选基因的发现
err2026-05-01
err0
errOAAI
errMarija Volk; Aleš Maver; Martina Jarc Vidmar; Nuša Trošt; Tanja Višnjar; Ana Fakin; Lea Kovač; Maja Šuštar Habjan; Lucija Malinar; Sanja Petrović Pajić; Urška Dragin Jerman; Rok Romih; Marko Hawlina; Borut Peterlin
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Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson’s Disease早发性或家族性帕金森病患者核编码线粒体代谢基因中稀有变异的富集
errGenes
IF2.8
err2026-04-17
err0
errOAAI
errGaber Bergant; Vesna M. van Midden; Polina Tsygankova; Dorian Laslo; Valentino Rački; Dejan Georgiev; Eliša Papić; Marija Branković; Milena Janković; Marina Svetel; Nataša Teran; Natasa Dragasević Misković; Igor Petrović; Aleš Maver; Ivana Novaković; Zvezdan Pirtošek; Martin Rakuša; Vladimira Vuletić; Borut Peterlin
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ACE gene and male infertility: a South Slavic case-control study and multi-omics data integrationACE基因与男性不育:一项南斯拉夫病例对照研究及多组学数据整合
err2025-12-31
err0
PREAI
errKunej, Tanja; Podgrajsek, Rebeka; Jaklic, Helena; Hodzic, Alenka; Stimpfel, Martin; Miljanovic, Olivera; Ristanovic, Momcilo; Novakovic, Ivana; Plaseska-Karanfilska, Dijana; Noveski, Predrag; Ostojic, Sasa; Buretic-Tomljanovic, Alena; Grskovic, Antun; Peterlin, Borut
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Towards clinical application of whole exome sequencing in the diagnosis of men with severely impaired spermatogenesis向临床应用全外显子组测序诊断严重生精障碍男性
err2025-12-17
err0
PREAI
errRebeka Podgrajsek; Alenka Hodzic; Ales Maver; Martin Stimpfel; Aleksander Andjelic; Olivera Miljanovic; Momcilo Ristanovic; Ivana Novakovic; Dijana Plaseska-Karanfilska; Predrag Noveski; Sasa Ostojic; Alena Buretic-Tomljanovic; Borut Peterlin
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The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort studyDNA错配修复mutS/mutL同源基因在精子发生和男性不育中的作用:一项系统综述和队列研究
err2025-11-19
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errOAAI
errPodgrajsek, Rebeka; Hodzic, Alenka; Maver, Ales; Stimpfel, Martin; Andjelic, Aleksander; Miljanovic, Olivera; Ristanovic, Momcilo; Novakovic, Ivana; Plaseska-Karanfilska, Dijana; Noveski, Predrag; Ostojic, Sasa; Buretic-Tomljanovic, Alena; Peterlin, Borut
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Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort揭示脑瘫的遗传病因:来自斯洛文尼亚儿科队列的研究发现
err2025-07-23
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errOAAI
errUla Arkar Silan; Ana Trebše; Jernej Kovač; Mihael Rogac; Anja Troha Gergeli; Robert Šket; Tina Bregant; David Neubauer; Borut Peterlin; Damjan Osredkar†
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Unraveling the complexity of skeletal dysplasias in the national health system
err2025-03-10
err0
errOAAI
errNajjar, Dorra; Maver, Ales; Peterlin, Ana; Jaklic, Helena; Peterlin, Borut
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Towards a patient-centred classification of genetic disease severity
err2025-02-18
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PREAI
errSajko, Mojca Cizek; Vidmar, Lovro; Prosenc, Bernarda; Grum, Brigita; Njenjic, Gordana; Peterlin, Borut
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Maternal and Parent-of-Origin Gene-Environment Effects on the Etiology of Orofacial Clefting母体及亲源基因-环境效应对口腔面部裂隙病因学的影响
errGENES
IF2.8
err2025-02-04
err0
errOAAI
errRasevic, Nikola; Bastasic, Joseph; Rubini, Michele; Rakesh, Mohan R.; Burkett, Kelly M.; Ray, Debashree; Mossey, Peter A.; Peterlin, Borut; Khan, Mohammad Faisal J.; Ravaei, Amin; Autelitano, Luca; Meazzini, Maria C.; Little, Julian; Roy-Gagnon, Marie-Helene
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The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana
err2024-09-05
err1
errOAAI
errPeterlin, Ana; Bertok, Sara; Writzl, Karin; Lovrecic, Luca; Maver, Ales; Peterlin, Borut; Debeljak, Marusa; Nosan, Gregor
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Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia全基因组分析揭示了MAPT,MOBP和APOE基因座在散发性额颞叶痴呆中的潜在作用
err2024-07-01
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errOAAI
errManzoni, Claudia; Kia, Demis A.; Ferrari, Raffaele; Leonenko, Ganna; Costa, Beatrice; Saba, Valentina; Jabbari, Edwin; Tan, Manuela M. X.; Albani, Diego; Alvarez, Victoria; Alvarez, Ignacio; Andreassen, Ole A.; Angiolillo, Antonella; Arighi, Andrea; Baker, Matt; Benussi, Luisa; Bessi, Valentina; Binetti, Giuliano; Blackburn, Daniel J.; Boada, Merce; Boeve, Bradley F.; Borrego-Ecija, Sergi; Borroni, Barbara; Brathen, Geir; Brooks, William S.; Bruni, Amalia C.; Caroppo, Paola; Bandres-Ciga, Sara; Clarimon, Jordi; Colao, Rosanna; Cruchaga, Carlos; Danek, Adrian; de Boer, Sterre C. M.; de Rojas, Itziar; di Costanzo, Alfonso; Dickson, Dennis W.; Diehl-Schmid, Janine; Dobson-Stone, Carol; Dols-Icardo, Oriol; Donizetti, Aldo; Dopper, Elise; Durante, Elisabetta; Ferrari, Camilla; Forloni, Gianluigi; Frangipane, Francesca; Fratiglioni, Laura; Kramberger, Milica G.; Galimberti, Daniela; Gallucci, Maurizio; Garcia-Gonzalez, Pablo; Ghidoni, Roberta; Giaccone, Giorgio; Graff, Caroline; Graff-Radford, Neill R.; Grafman, Jordan; Halliday, Glenda M.; Hernandez, Dena G.; Hjermind, Lena E.; Hodges, John R.; Holloway, Guy; Huey, Edward D.; Illan-Gala, Ignacio; Josephs, Keith A.; Knopman, David S.; Kristiansen, Mark; Kwok, John B.; Leber, Isabelle; Leonard, Hampton L.; Libri, Ilenia; Lleo, Alberto; Mackenzie, Ian R.; Madhan, Gaganjit K.; Maletta, Raffaele; Marquie, Marta; Maver, Ales; Menendez-Gonzalez, Manuel; Milan, Graziella; Miller, Bruce L.; Morris, Christopher M.; Morris, Huw R.; Nacmias, Benedetta; Newton, Judith; Nielsen, Jorgen E.; Nilsson, Christer; Novelli, Valeria; Padovani, Alessandro; Pal, Suvankar; Pasquier, Florence; Pastor, Pau; Perneczky, Robert; Peterlin, Borut; Petersen, Ronald C.; Piguet, Olivier; Pijnenburg, Yolande A. L.; Puca, Annibale A.; Rademakers, Rosa; Rainero, Innocenzo; Reus, Lianne M.; Richardson, Anna M. T.; Riemenschneider, Matthias; Rogaeva, Ekaterina; Rogelj, Boris; Rollinson, Sara; Rosen, Howard; Rossi, Giacomina; Rowe, James B.; Rubino, Elisa; Ruiz, Agustin; Salvi, Erika; Sanchez-Valle, Raquel; Sando, Sigrid Botne; Santillo, Alexander F.; Saxon, Jennifer A.; Schlachetzki, Johannes C. M.; Scholz, Sonja W.; Seelaar, Harro; Seeley, William W.; Serpente, Maria; Sorbi, Sandro; Sordon, Sabrina; St George-Hyslop, Peter; Thompson, Jennifer C.; Van Broeckhoven, Christine; Van Deerlin, Vivianna M.; Van der Lee, Sven J.; Van Swieten, John; Tagliavini, Fabrizio; van der Zee, Julie; Veronesi, Arianna; Vitale, Emilia; Waldo, Maria Landqvist; Yokoyama, Jennifer S.; Nalls, Mike A.; Momeni, Parastoo; Singleton, Andrew B.; Hardy, John; Escott-Price, Valentina
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An ESHG-ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction
err2024-06-14
err0
PREAI
errCapalbo, Antonio; de Wert, Guido; Henneman, Lidewij; Kakourou, Georgia; Mcheik, Saria; Peterlin, Borut; van El, Carla; Vassena, Rita; Vermeulen, Nathalie; Viville, Stephane; Forzano, Francesca
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Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
err2024-06-05
err2
errOAAI
errMaver, Ales; Lohmann, Katja; Borovecki, Fran; Wolstenholme, Nicola; Taylor, Rachel L.; Spielmann, Malte; Haack, Tobias B.; Gerberding, Matthias; Peterlin, Borut; Graessner, Holm
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The Genetic Approach to Stillbirth: A Systematic Review
err2024-03-01
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PREAI
errMerc, Maja Dolanc; Peterlin, Borut; Lovrecic, Luca
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