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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24.
Genet Med. 2022.
PMID: 36001086
Free PMC article.
Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.
Edizadeh M, Kaymakcalan H, Valilou SF, Şahin Y.
Edizadeh M, et al.
Am J Med Genet A. 2023 May;191(5):1465-1469. doi: 10.1002/ajmg.a.63146. Epub 2023 Feb 9.
Am J Med Genet A. 2023.
PMID: 36757286
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ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.
Piryaei F, Pakmanesh R, Salehirad M, Akbari S, Edizadeh M, Khodadadi H.
Piryaei F, et al. Among authors: edizadeh m.
Eur J Med Genet. 2023 Aug;66(8):104801. doi: 10.1016/j.ejmg.2023.104801. Epub 2023 Jun 18.
Eur J Med Genet. 2023.
PMID: 37339696
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A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.
Farajzadeh Valilou S, Karimzad Hagh J, Salimi Asl M, Abdi Rad I, Edizadeh M, Pooladi A.
Farajzadeh Valilou S, et al. Among authors: edizadeh m.
Clin Case Rep. 2021 Aug 23;9(8):e04520. doi: 10.1002/ccr3.4520. eCollection 2021 Aug.
Clin Case Rep. 2021.
PMID: 34466237
Free PMC article.
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Comprehensive analysis of circulating viral DNA in maternal plasma at population-scale using low-pass whole-genome sequencing.
Eldem V, Kuralay SC, Özdoğan G, Özçelik GH, Aydın D, Çakmak G, Gürler MÖ, Çay SB, Çınar YU, Dikmen F, Yusuf I, Obut O, Kayalar Ö, Zararsız GE, Edizadeh M, Zararsız G, Akdeniz E, Özgür H, Tekin IM.
Eldem V, et al. Among authors: edizadeh m.
Genomics. 2023 Mar;115(2):110556. doi: 10.1016/j.ygeno.2022.110556. Epub 2023 Jan 1.
Genomics. 2023.
PMID: 36599399
Free article.
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De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, Najmabadi H, Nafissi S.
Edizadeh M, et al.
Arch Iran Med. 2017 Sep;20(9):617-620.
Arch Iran Med. 2017.
PMID: 29048924
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