| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 88 | 2019 |
| Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ... Genetics in Medicine 20 (9), 965-975, 2018 | 85 | 2018 |
| Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients L Garavelli, I Ivanovski, SG Caraffi, D Santodirocco, M Pollazzon, ... Genetics in Medicine 19 (6), 691-700, 2017 | 59 | 2017 |
| NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain S Liu, KA Aldinger, CV Cheng, T Kiyama, M Dave, HK McNamara, ... Molecular cell 81 (22), 4663-4676. e8, 2021 | 35 | 2021 |
| Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma L Garavelli, V Cordeddu, S Errico, P Bertolini, ME Street, S Rosato, ... American Journal of Medical Genetics Part A 167 (8), 1902-1907, 2015 | 25 | 2015 |
| Natural history and life-threatening complications in Myhre syndrome and review of the literature L Garavelli, I Maini, F Baccilieri, I Ivanovski, M Pollazzon, S Rosato, ... European journal of pediatrics 175, 1307-1315, 2016 | 22 | 2016 |
| Multiple sulfatase deficiency with neonatal manifestation L Garavelli, L Santoro, A Iori, G Gargano, S Braibanti, S Pedori, N Melli, ... Italian journal of pediatrics 40, 1-4, 2014 | 22 | 2014 |
| Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes I Ivanovski, S Akbaroghli, M Pollazzon, C Gelmini, SG Caraffi, M Mansouri, ... American journal of medical genetics Part A 176 (5), 1166-1174, 2018 | 21 | 2018 |
| Erythrocytic transglutaminase inhibition hemolysis at presentation of celiac disease P Ivanovski, D Nikolić, N Dimitrijević, I Ivanovski, V Perišić World Journal of Gastroenterology: WJG 16 (44), 5647, 2010 | 18 | 2010 |
| Mowat-Wilson syndrome: growth charts I Ivanovski, O Djuric, S Broccoli, SG Caraffi, P Accorsi, MP Adam, K Avela, ... Orphanet journal of rare diseases 15, 1-12, 2020 | 16 | 2020 |
| Severe peripheral joint laxity is a distinctive clinical feature of spondylodysplastic-Ehlers-Danlos syndrome (EDS)-B4GALT7 and spondylodysplastic-EDS-B3GALT6 SG Caraffi, I Maini, I Ivanovski, M Pollazzon, S Giangiobbe, M Valli, ... Genes 10 (10), 799, 2019 | 16 | 2019 |
| Aluminium in brain tissue in autism I Ivanovski, A Ivanovski, D Nikolić, P Ivanovski Journal of Trace Elements in Medicine and Biology 51, 138-140, 2019 | 15 | 2019 |
| Alazami syndrome: The first case of papillary thyroid carcinoma I Ivanovski, SG Caraffi, E Magnani, S Rosato, M Pollazzon, L Matalonga, ... Journal of Human Genetics 65 (2), 133-141, 2020 | 14 | 2020 |
| The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects C Tran, L Turolla, D Ballhausen, SC Buros, T Teav, H Gallart-Ayala, ... Molecular Genetics and Metabolism Reports 28, 100777, 2021 | 13 | 2021 |
| Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies S Giangiobbe, SG Caraffi, I Ivanovski, I Maini, M Pollazzon, S Rosato, ... American Journal of Medical Genetics Part A 182 (12), 2877-2886, 2020 | 13 | 2020 |
| Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 ML De Bernardi, I Ivanovski, SG Caraffi, I Maini, ME Street, A Bayat, ... American Journal of Medical Genetics Part A 176 (9), 1991-1995, 2018 | 13 | 2018 |
| Metabolically based liver damage pathophysiology in patients with urea cycle disorders-A new hypothesis I Ivanovski, M Ješić, A Ivanovski, L Garavelli, P Ivanovski World Journal of Gastroenterology 23 (44), 7930, 2017 | 13 | 2017 |
| Mitotic crossover-an evolutionary rudiment which promotes carcinogenesis of colorectal carcinoma B Rovcanin, I Ivanovski, O Djuric, D Nikolic, J Petrovic, P Ivanovski World Journal of Gastroenterology: WJG 20 (35), 12522, 2014 | 11 | 2014 |
| Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons R Asadollahi, I Delvendahl, R Muff, G Tan, DG Rodríguez, S Turan, ... Human Molecular Genetics 32 (13), 2192-2204, 2023 | 9 | 2023 |
| The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort P Zanoni, K Steindl, H Sticht, B Oneda, P Joset, I Ivanovski, AHC Horn, ... European Journal of Human Genetics 31 (7), 784-792, 2023 | 8 | 2023 |
Stefano CaraffiASMN - IRCCS在 asmn.re.it 的电子邮件经过验证
Stefano CaraffiASMN - IRCCS在 asmn.re.it 的电子邮件经过验证