Autori: Peterlin Borut
Naslov | Rare missense TUBGCP5 gene variant in a patient with primary microcephaly (Article) |
Autori | Maver Ales Cuturilo Goran Kovanda Anja Miletic Aleksandra Peterlin Borut |
Info | EUROPEAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 62 br. 12, str. - |
Projekat | ARRS research programme [P3-0326, J3-8205, J3-5506] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome (Meeting Abstract) |
Autori | Ruml-Stojanovic Jelena Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Peterlin Borut Maver Ales Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 945-945 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience (Meeting Abstract) |
Autori | Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Peterlin Borut Maver Ales Ruml-Stojanovic Jelena Zivanovic M Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 164-164 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | De novo mutations in idiopathic male infertility (Meeting Abstract) |
Autori | Hodic A Maver Ales Zorn Branko Plaseska-Karanfilska D Ristanovic Momcilo Novakovic Ivana V ![]() |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 16-17 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Increased burden of ultra-rare genetic variants in the inflammasome regulatory genes in patients with multiple sclerosis (Meeting Abstract) |
Autori | Peterlin Borut Vidmar Lovro Drulovic Jelena S ![]() ![]() ![]() |
Info | EUROPEAN JOURNAL OF NEUROLOGY, (2019), vol. 26 br. , Suppl. 1, str. 885-885 |
Projekat | Slovenian Research Agency |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes (Article) |
Autori | Vidmar Lovro Mayer Ales Drulovic Jelena S ![]() ![]() ![]() |
Info | SCIENTIFIC REPORTS, (2019), vol. 9 br. , str. - |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype (Meeting Abstract) |
Autori | Mijovic Marija Miletic Aleksandra Ruml-Stojanovic Jelena Peterlin Borut Maver Ales Borlja Nikola Dimitrijevic Brankica Lukic M Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 465-465 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Association between angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to preterm birth: A case-control study and meta-analysis (Article) |
Autori | Hocevar Keli Peterlin Ana Mitrovic-Jovanovic Ana Bozovic Aleksandra Ristanovic Momcilo Tul Natasa Peterlin Borut |
Info | EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, (2018), vol. 231 br. , str. 122-128 |
Projekat | Slovenian Research Agency [P3-0326] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Genotype and phenotype characteristics of Leber hereditary optic neuropathy (LHON) patients in Slovenia (Meeting Abstract) |
Autori | Petrovic Pajic Sanja MI Jarc-Vidmar Martina Fakin Ana Sustar Maja Brecelj Jelka Lapajne Luka Glavac Damjan Tajnik Mojca Peterlin Borut Volk Marija Maver Ales Hawlina Marko |
Info | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, (2018), vol. 59 br. 9, str. - |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Genetic variation in the CLOCK gene is associated with idiopathic recurrent spontaneous abortion (Article) |
Autori | Hodzic Alenka Lavtar Polona Ristanovic Momcilo Novakovic Ivana V ![]() |
Info | PLOS ONE, (2018), vol. 13 br. 5, str. - |
Projekat | Slovenian Research Agency [P3-0326] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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