| Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ... European Journal of Human Genetics 23 (3), 292-301, 2015 | 140 | 2015 |
| KRAS, NRAS, BRAF, HER2 and microsatellite instability in metastatic colorectal cancer–practical implications for the clinician VA Afrăsânie, MV Marinca, T Alexa-Stratulat, B Gafton, M Păduraru, ... Radiology and oncology 53 (3), 265-274, 2019 | 136 | 2019 |
| Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN P Seemann, A Brehm, J König, C Reissner, S Stricker, P Kuss, J Haupt, ... PLoS genetics 5 (11), e1000747, 2009 | 120 | 2009 |
| Twenty‐six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) I Wieland, W Reardon, S Jakubiczka, B Franco, W Kress, ... Human mutation 26 (2), 113-118, 2005 | 74 | 2005 |
| Schimke immunoosseous dysplasia: suggestions of genetic diversity JM Clewing, H Fryssira, D Goodman, SF Smithson, EA Sloan, S Lou, ... Human mutation 28 (3), 273-283, 2007 | 68 | 2007 |
| Schimke immunoosseous dysplasia: defining skeletal features KB Hunter, T Lücke, J Spranger, SF Smithson, H Alpay, JL André, ... European journal of pediatrics 169, 801-811, 2010 | 30 | 2010 |
| Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic … D Lessel, AB Ozel, SE Campbell, A Saadi, MF Arlt, KM McSweeney, ... Human genetics 137, 921-939, 2018 | 27 | 2018 |
| Genetic modifying factors of cystic fibrosis phenotype: a challenge for modern medicine LI Butnariu, E Țarcă, E Cojocaru, C Rusu, ȘM Moisă, ... Journal of Clinical Medicine 10 (24), 5821, 2021 | 26 | 2021 |
| Ring autosomes: some unexpected findings L Caba, C Rusu, V Plăiaşu, G Gug, M Grămescu, C Bujoran, D Ochiană, ... Balkan Journal of Medical Genetics 15 (2), 35-46, 2012 | 25 | 2012 |
| Moebius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome A Verloes, P Bitoun, A Heuskin, D Amrom, H Van de Broeck, SM Nikkel, ... American Journal of Medical Genetics Part A 127 (3), 277-287, 2004 | 18 | 2004 |
| Wolf-Hirschhorn syndrome: clinical and genetic study of 7 new cases, and mini review EC Gavril, AC Luca, AS Curpan, R Popescu, I Resmerita, MC Panzaru, ... Children 8 (9), 751, 2021 | 17 | 2021 |
| Ethnicity-related DMD genotype landscapes in European and non-European countries R Selvatici, R Rossi, F Fortunato, C Trabanelli, Y Sifi, A Margutti, M Neri, ... Neurology: Genetics 7 (1), e536, 2020 | 16 | 2020 |
| Risk factors in autism spectrum disorders: the role of genetic, epigenetic, immune and environmental interactions. C Rusu, C Preda, A Sireteanu, C Vulpoi Environmental Engineering & Management Journal (EEMJ) 14 (4), 2015 | 16 | 2015 |
| Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review I Resmerita, RS Cozma, R Popescu, LM Radulescu, MC Panzaru, ... Genes 11 (12), 1506, 2020 | 15 | 2020 |
| Phenotypic variability in Patau syndrome L Caba¹, C Rusu¹, L Butnariu¹, M Panzaru¹, E Braha¹, M Volosciuc, ... | 13 | 2013 |
| Natural killer cell subpopulations and inhibitory receptor dynamics in myelodysplastic syndromes and acute myeloid leukemia VA Cianga, L Campos Catafal, P Cianga, M Pavel Tanasa, M Cherry, ... Frontiers in Immunology 12, 665541, 2021 | 11 | 2021 |
| Genotype-phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature L BUTNARIU, R Cristina, C Lavinia, M Pânzaru, E Braha, M GRAMESCU, ... The Medical-Surgical Journal 117 (3), 714-721, 2013 | 11 | 2013 |
| First report of pachyonychia congenita type PC-K6a in the Romanian population A Chiriac, R Cristina, A Murgu, AE Chiriac, NJ Wilson, FJD Smith Maedica 12 (2), 123, 2017 | 9 | 2017 |
| Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability A Sireteanu, R Popescu, EE Braha, C Bujoran, L Butnariu, L Caba, ... Revista Romana de Medicina de Laborator 22 (2), 157-164, 2014 | 9 | 2014 |
| Clopidogrel resistance--risk factor in patients with acute coronary syndromes C Il, C Rusu, I Ivanov, R Popescu, A Petriş Revista Medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi …, 2012 | 9 | 2012 |
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