Autori: Maver Ales
Naslov | A Novel Variant in the LIPA Gene Associated with Distinct Phenotype (Article) |
Autori | Sarajlija Adrijan ![]() |
Info | BALKAN JOURNAL OF MEDICAL GENETICS, (2022), vol. 25 br. 1, str. 93-99 |
Ispravka | Web of Science Članak Elečas Rang časopisa |
|
Naslov | Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case series (Article) |
Autori | Petrovic Pajic Sanja MI Jarc-Vidmar Martina Fakin Ana Sustar-Habjan Maja Brecelj Jelka Volk Marija Maver Ales Peterlin Borut Hawlina Marko |
Info | FRONTIERS IN NEUROLOGY, (2022), vol. 13 br. , str. - |
Projekat | Slovenian Research Agency; [P3-0333] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science |
|
Naslov | The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy (Article) |
Autori | Petrovic Pajic Sanja MI Lapajne Luka Vratanar Bor Fakin Ana Jarc-Vidmar Martina Sustar-Habjan Maja Volk Marija Maver Ales Peterlin Borut Hawlina Marko |
Info | JOURNAL OF CLINICAL MEDICINE, (2022), vol. 11 br. 20, str. - |
Projekat | Slovenian Research Agency [P3-0333] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
|
Naslov | Clinical Exome Sequencing in Serbian Patients with Movement Disorders - Single Centre Experience (Article) |
Autori | Brankovic Marija ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
Info | GENETIKA-BELGRADE, (2022), vol. 54 br. 1, str. 395-409 |
Projekat | Serbian Ministry of education, science, and technological development [175090, 175091] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
|
Naslov | Relative preservation of central retinal layers in LHON in comparison to other optic neuropathies (Meeting Abstract) |
Autori | Petrovic Pajic Sanja MI Lapajne Luka Fakin Ana Jarc-Vidmar Martina Glavac Damjan Volk Marija Maver Ales Vratanar Bor Stare Janez Peterlin Borut Hawlina Marko |
Info | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, (2022), vol. 63 br. 7, str. - |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
|
Naslov | Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the Balkans (Meeting Abstract) |
Autori | Maver Ales Kovanda Anja Bergant Gaber Teran Natasa Vrecar Irena Brankovic Marija ![]() ![]() ![]() ![]() |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 292-292 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
|
Naslov | De novo mutations in idiopathic male infertility-A pilot study (Article) |
Autori | Hodzic Alenka Maver Ales Plaseska-Karanfilska Dijana Ristanovic Momcilo Noveski Predrag Zorn Branko Terzic Marija Kunej Tanja Peterlin Borut |
Info | ANDROLOGY, (2021), vol. 9 br. 1, str. 212-220 |
Projekat | Slovenian Research Agency - Slovenia [P3-0326]; Ministry of Education and Science of R. Macedonia [17-4523/1] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
|
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 | Web of Science Elečas Rang časopisa Citati: 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 | Web of Science Elečas Rang časopisa Citati: 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 ![]() |
Info | JOURNAL OF CHILD NEUROLOGY, (2020), vol. 35 br. 2, str. 116-131 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
|