Autori: Maver Ales
| 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 | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| 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 | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| 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 | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | De novo mutations in idiopathic male infertility (Meeting Abstract) |
| Autori | Hodzic Alenka Maver Ales Zorn Branko Plaseska-Karanfilska Dijana Ristanovic Momcilo Novakovic Ivana V Peterlin Borut |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 16-17 |
| Ispravka | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| 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 Sepcic Juraj Novakovic Ivana V Ristic Smiljana Sega-Jazbec Sasa Maver Ales |
| Info | EUROPEAN JOURNAL OF NEUROLOGY, (2019), vol. 26 br. , Suppl. 1, str. 885-885 |
| Projekat | Slovenian Research Agency |
| Ispravka | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| 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 | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | The burden of rare genetic variants in genes involved in tumor necrosis factor (TNF) signalling pathway in multiple sclerosis (MS) (Meeting Abstract) |
| Autori | Peterlin AM Maver Ales Hodzic A Sega Sasa Drulovic Jelena S Novakovic Ivana V Pekmezovic Tatjana D Ristic S Kapovic Miljenko Peterlin Borut |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 400-400 |
| Ispravka | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| 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 | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice (Article) |
| Autori | Tumiene B Maver Ales Writzl Karin Hodzic A Cuturilo Goran Kuzmanic-Samija Radenka Culic V Peterlin Borut |
| Info | CLINICAL GENETICS, (2018), vol. 93 br. 5, str. 1057-1062 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases (Article) |
| Autori | Bergant Gaber Maver Ales Lovrecic Luca Cuturilo Goran Hodzic Alenka Peterlin Borut |
| Info | GENETICS IN MEDICINE, (2018), vol. 20 br. 3, str. 303-312 |
| Projekat | Slovenian Research Agency [P3-0326] |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
