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Page 1
Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series.
Ghasemi MR, Zargari P, Sadeghi H, Bagheri S, Sadeghgi B, Mirfakhraie R, Ekrami M, Mohammadi Sarvaleh S, Hashemi Gorji F, Razjouyan K, Omrani D, Kim HG, Miryounesi M. Ghasemi MR, et al. Among authors: sadeghi h. Iran J Child Neurol. 2022 Spring;16(2):117-128. doi: 10.22037/ijcn.v16i4.34843. Epub 2022 Mar 14. Iran J Child Neurol. 2022. PMID: 35497098 Free PMC article.
Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.
Tehrani Fateh S, Bagheri S, Sadeghi H, Salehpour S, Fazeli Bavandpour F, Sadeghi B, Jamshidi S, Tonekaboni SH, Mirfakhraie R, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: sadeghi h, sadeghi b. Neurol Sci. 2023 Dec;44(12):4491-4498. doi: 10.1007/s10072-023-06960-0. Epub 2023 Jul 15. Neurol Sci. 2023. PMID: 37452996
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Tehrani Fateh S, Mohammad Zadeh N, Salehpour S, Hashemi-Gorji F, Omidi A, Sadeghi H, Mirfakhraie R, Moghimi P, Keyvanfar S, Mohammadi Sarvaleh S, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: sadeghi h. BMC Med Genomics. 2024 Jan 12;17(1):20. doi: 10.1186/s12920-024-01798-7. BMC Med Genomics. 2024. PMID: 38216990 Free PMC article. Review.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, Rezaei M, Hashemi-Gorji F, Rezvani Kashani M, Fazeli Bavandpour F, Bagheri S, Moghimi P, Rostami M, Madannejad R, Roudgari H, Miryounesi M. Ghasemi MR, et al. Among authors: sadeghi h. BMC Med Genomics. 2024 Feb 13;17(1):51. doi: 10.1186/s12920-024-01810-0. BMC Med Genomics. 2024. PMID: 38347586 Free PMC article.
702 results