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Autori: Maver Ales

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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  
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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  Jankovic Milena Z  Svetel Marina V  Kostic Vladimir S Novakovic Ivana V  Racki Valentino Vuletic Vladimira Peterlin Borut 
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  
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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  
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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  
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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  
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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 Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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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 Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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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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