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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Hammarsjö A, et al. Among authors: nasiri j. Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1. Sci Rep. 2017. PMID: 29138412 Free PMC article.
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
Sedghi M, Moslemi AR, Olive M, Etemadifar M, Ansari B, Nasiri J, Emrahi L, Mianesaz HR, Laing NG, Tajsharghi H. Sedghi M, et al. Among authors: nasiri j. Ann Clin Transl Neurol. 2019 Nov;6(11):2197-2204. doi: 10.1002/acn3.50912. Epub 2019 Sep 27. Ann Clin Transl Neurol. 2019. PMID: 31560180 Free PMC article.
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP. Reza Sailani M, et al. Among authors: nasiri j. Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 4. Hum Genet. 2017. PMID: 28054173
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
Nasiri J, Salehi M, Hosseinzadeh M, Zamani M, Fattahpour S, Aryani O, Fazel Najafabadi E, Jabarzadeh M, Asadi S, Gholamrezapour T, Sedghi M, Ghorbani F. Nasiri J, et al. Iran J Child Neurol. 2019 Summer;13(3):25-34. Iran J Child Neurol. 2019. PMID: 31327966 Free PMC article.
71 results