Autori: Cuturilo Goran
Naslov | Detection rate of 22q11.2 microdeletion using strict diagnostic criteria (Meeting Abstract) |
Autori | Drakulic Danijela D ![]() ![]() ![]() |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 240-240 |
Projekat | Ministry of Education, Science and Technological Development of the Republic of Serbia [173051, 451-03-68/2022-14/200042]; Serbian Academy of Sciences and Arts (MIKRO-NEURO) [01-2021] |
Ispravka | Web of Science Elečas Rang časopisa |
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Naslov | 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis (Meeting Abstract) |
Autori | Miletic Aleksandra Cuturilo Goran Ruml-Stojanovic Jelena Drakulic Danijela D ![]() ![]() ![]() |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 140-140 |
Projekat | Ministry of Education, Science and Technological Development of the Republic of Serbia [451-03-68/2020-14/200042]; Serbian Academy of Sciences and Arts |
Ispravka | Web of Science Elečas Rang časopisa |
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Naslov | Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome (Article) |
Autori | Van der Spek Jet ... Cuturilo Goran ... (broj koautora 46) |
Info | GENETICS IN MEDICINE, (2022), vol. 24 br. 6, str. 1283-1296 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers (Article) |
Autori | Tylki-Szymanska Anna ... Cuturilo Goran Djordjevic Maja S ... (broj koautora 18) |
Info | ORPHANET JOURNAL OF RARE DISEASES, (2022), vol. 17 br. 1, str. - |
Projekat | BioMarin Pharmaceuticals Inc. |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Multiple major anomalies and microcephaly predict the detection of pathogenic copy number variations in patients with moderate and severe global developmental delay/intellectual disability (Meeting Abstract) |
Autori | Ruml-Stojanovic Jelena Mijovic Marija ![]() |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 239-239 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome (Meeting Abstract) |
Autori | Van der Spek Jet ... Cuturilo Goran ... (broj koautora 33) |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 234-234 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | What are key parameters for obtaining the most likely clinical diagnosis from the wide phenotypic spectrum of skeletal dysplasia in patients with previously identified disease-causing gene variant (Meeting Abstract) |
Autori | Mijovic Marija ![]() ![]() |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 181-181 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Ring chromosome 20: a further contribution to the delineation of epileptic phenotype (Article) |
Autori | Borkovic Milan P Cuturilo Goran Cerovac Natasa M ![]() |
Info | VOJNOSANITETSKI PREGLED, (2022), vol. 79 br. 2, str. 196-200 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit (Article) |
Autori | Miletic Aleksandra Ruml-Stojanovic Jelena Parezanovic Vojislav M Rsovac Snezana ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
Info | EUROPEAN JOURNAL OF PEDIATRICS, (2021), vol. 180 br. 10, str. 3219-3227 |
Projekat | Ministry of Education, Science and Technological Development, Republic of Serbia [451-03-68/2020-14/200042] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants (Article) |
Autori | Chawner Samuel JRA ... Cuturilo Goran ... Mihaljevic Marina M ![]() ![]() |
Info | AMERICAN JOURNAL OF PSYCHIATRY, (2021), vol. 178 br. 1, str. 77-86 |
Projekat | Baily Thomas Charitable Trust [2315/1]; Brain Canada Foundation; Canada Research Chair in Genetics of NeurodevelopmentalDisorders; Canadian Institutes of Health Research (CIHR) [400528/159734]; Health and Care Research |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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