| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 186 | 2014 |
| Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ... Human genetics 135, 953-961, 2016 | 138 | 2016 |
| Novel EYA1 variants causing Branchio-oto-renal syndrome KD Klingbeil, CM Greenland, S Arslan, AL Paneque, H Gurkan, SD Ulusal, ... International journal of pediatric otorhinolaryngology 98, 59-63, 2017 | 30 | 2017 |
| A homozygous NOP14 variant is likely to cause recurrent pregnancy loss T Suzuki, M Behnam, F Ronasian, M Salehi, M Shiina, E Koshimizu, ... Journal of human genetics 63 (4), 425-430, 2018 | 25 | 2018 |
| A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract M Behnam, E Imagawa, ARS Chaleshtori, F Ronasian, M Salehi, ... Journal of human genetics 61 (2), 177-179, 2016 | 25 | 2016 |
| Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease C Martins, PFV de Medeiros, S Leistner‐Segal, L Dridi, N Elcioglu, ... Human mutation 40 (8), 1084-1100, 2019 | 23 | 2019 |
| Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy M Sakamoto, K Iwama, F Sekiguchi, H Mashimo, S Kumada, K Ishigaki, ... Journal of Human Genetics 66 (4), 401-407, 2021 | 19 | 2021 |
| Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in … N Nouri, E Fazel-Najafabadi, M Salehi, M Hosseinzadeh, M Behnam, ... Advanced biomedical research 3 (1), 72, 2014 | 19 | 2014 |
| Sirenomelia: two case reports A Shojaee, F Ronnasian, M Behnam, M Salehi Journal of medical case reports 15 (1), 217, 2021 | 18 | 2021 |
| Mutation of kisspeptin 1 gene in children with precocious puberty in isfahan city A Mazaheri, M Hashemipour, M Salehi, M Behnam, S Hovsepian, ... International journal of preventive medicine 6, 2015 | 18 | 2015 |
| Association of AHSG with alopecia and mental retardation (APMR) syndrome M Reza Sailani, F Jahanbani, J Nasiri, M Behnam, M Salehi, M Sedghi, ... Human genetics 136, 287-296, 2017 | 16 | 2017 |
| Homozygous MAPT R406W mutation causing FTDP phenotype: a unique instance of a unique mutation M Behnam, F Ghorbani, JH Shin, DS Kim, H Jang, N Nouri, M Sedghi, ... Gene 570 (1), 150-152, 2015 | 15 | 2015 |
| Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome E Imagawa, R Fukai, M Behnam, M Goyal, N Nouri, M Nakashima, ... Human genome variation 2 (1), 1-3, 2015 | 15 | 2015 |
| Two different UGT1A1 mutations causing Crigler-Najjar syndrome types I and II in an Iranian family Y Maruo, M Behnam, S Ikushiro, S Nakahara, N Nouri, M Salehi J Gastrointestin Liver Dis 24 (4), 523-6, 2015 | 14 | 2015 |
| Further supporting evidence for REEP1 phenotypic and allelic heterogeneity R Maroofian, M Behnam, R Kaiyrzhanov, V Salpietro, M Salehi, ... Neurology: Genetics 5 (6), e379, 2019 | 9 | 2019 |
| Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran M Sedghi, M Behnam, E Fazel, M Salehi, H Ganji, R Meamar, ... Advanced Biomedical Research 3 (1), 74, 2014 | 9 | 2014 |
| IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease R Khoshnevisan, N Nekooei-Marnany, C Klein, D Kotlarz, M Behnam, ... Journal of Clinical Tuberculosis and Other Mycobacterial Diseases 17, 100123, 2019 | 8 | 2019 |
| Establishment and development of the first biobank of inflammatory bowel disease, suspected to primary immunodeficiency diseases in Iran R Sherkat, S Rostami, M Yaran, MH Emami, H Saneian, H Tavakoli, ... Advanced biomedical research 7 (1), 45, 2018 | 8 | 2018 |
| A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy M Behnam, S Jin-Hong, DS Kim, K Basiri, Y Nilipour, M Sedghi Journal of Research in Medical Sciences: the Official Journal of Isfahan …, 2014 | 7 | 2014 |
| Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries N Nouri, E Fazel-Najafabadi, M Behnam, N Nouri, O Aryani, M Ghasemi, ... Gene 535 (2), 250-254, 2014 | 7 | 2014 |
Mansoor Salehi1.Department of Genetics and Molecular Biology Medical School, Isfahan University of Medical Science在 med.mui.ac.ir 的电子邮件经过验证
