Autori: Peterlin Borut
| Naslov | Skeletal dysplasia in the era of genomic testing: first experience of a single genetic outpatient clinic from Serbia (Meeting Abstract) |
| Autori | Mijovic Marija Ruml-Stojanovic Jelena Miletic Aleksandra Bosankic Brankica Janeski Hristina Peterlin Borut Maver Ales Cuturilo Goran |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2020), vol. 28 br. SUPPL 1, Suppl. 1, str. 831-831 |
| Ispravka | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | Phenotype and genotype spectrum of patients with a bilateral optic neuropathy in population of Slovenia (Meeting Abstract) |
| Autori | Petrovic Pajic Sanja MI Jarc-Vidmar Martina Fakin Ana Sustar Maja Brecelj Jelka Lapajne Luka Volk Marija Maver Ales Peterlin Borut Hawlina Marko |
| Info | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, (2020), vol. 61 br. 7, str. - |
| Ispravka | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability (Article) |
| Autori | Ruml-Stojanovic Jelena Miletic Aleksandra Peterlin Borut Maver Ales Mijovic Marija Borlja Nikola Dimitrijevic Brankica Soldatovic Ivan A Cuturilo Goran |
| Info | JOURNAL OF CHILD NEUROLOGY, (2020), vol. 35 br. 2, str. 116-131 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in Two Siblings (Article) |
| Autori | Joksic Ivana D Cuturilo Goran Jurisic Aleksandar I Djuricic Slavisa M Peterlin Borut Mijovic Marija Karadzov-Orlic Natasa T Egic Amira Milovanovic Zagorka M |
| Info | BALKAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 22 br. 2, str. 83-87 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | Clinical Next Generation Sequencing Reveals An H3f3a Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation (Article) |
| Autori | Maver Ales Cuturilo Goran Stojanovic Ruml J Peterlin Borut |
| Info | BALKAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 22 br. 2, str. 65-68 |
| Projekat | Slovenian Research Agency - Slovenia [J3-8205, J3-9280, P3-0326] |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| 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 |
