Search Results - Mohammad Miryounesi

Refine Results
  1. 1

    A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia by Mohammad Miryounesi, Soudeh Ghafouri-Fard, Majid Fardaei

    Published in Iranian Journal of Medical Sciences (2016-09-01)
    Get full text
    Article


  2. 2

    Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings by Parvaneh Karimzadeh, Sepideh Rezakhani, Mohammad Miryounesi, Sahar Alijanpour

    Published in Clinical Case Reports (2022-08-01)
    Get full text
    Article


  3. 3

    Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients by Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard

    Published in Scientific Reports (2025-05-01)
    Get full text
    Article


  4. 4

    Overview of genetic variants in a cohort of Iranian patients with leukodystrophy by Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard

    Published in Scientific Reports (2025-07-01)
    Get full text
    Article


  5. 5

    Report of a Case with Trisomy 9 Mosaicism by Mohammad Miryounesi, Mehdi Dianatpour, Zahra Shadmani, Soudeh Ghafouri-Fard

    Published in Iranian Journal of Medical Sciences (2016-05-01)
    Get full text
    Article


  6. 6

    An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 by Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh

    Published in International Journal of Endocrinology (2021-01-01)
    Get full text
    Article


  7. 7

    A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies by Sheyda Khalilian, Mohadeseh Fathi, Raheleh Tangestani, Pegah Larki, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi

    Published in Human Genomics (2025-05-01)
    Get full text
    Article


  8. 8

    Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study by Sheyda Khalilian, Mohadeseh Fathi, Sanaz Jamshidi, Rasoul Madannejad, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi

    Published in BMC Medical Genomics (2025-04-01)
    Get full text
    Article


  9. 9

    Overview of genetic mutations causing adrenoleukodystrophy: A case-series study by Mohadeseh Fathi, Sheyda Khalilian, Arezou Sayad, Parvaneh Karimzadeh, Farzad Ahmadabadi, Soudeh Ghafouri-Fard, Mohammad Miryounesi

    Published in Molecular Genetics and Metabolism Reports (2025-09-01)
    Get full text
    Article


  10. 10

    Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review by Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Morteza Sheikhi Nooshabadi, Sahar Alijanpour, Ali Mardi, Mohammad Miryounesi

    Published in Epilepsy & Behavior Reports (2024-01-01)
    Get full text
    Article


  11. 11

    Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study by Zahra Rahmani, Dina Rahmani, Marie Saghaeian Jazi, Mohammad-Reza Ghasemi, Hossein Sadeghi, Mohammad Miryounesi, Katayoon Razjouyan, Mohammad Reza Fayyazi Bordbar

    Published in Scientific Reports (2024-11-01)
    Get full text
    Article


  12. 12

    Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review by Iman Elahi Vahed, Sahand Tehrani Fateh, Melika Kamali, Farzad Hashemi-Gorji, Zahra Esmaeilzadeh, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi

    Published in Molecular Genetics and Metabolism Reports (2024-09-01)
    Get full text
    Article


  13. 13

    Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions by Aysan Moeinafshar, Mohammad Nouri, Nima Shokrollahi, Mahdi Masrour, Amirmohammad Behnam, Sahand Tehrani Fateh, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi

    Published in Cancer Cell International (2024-01-01)
    Get full text
    Article


  14. 14

    Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review by Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi

    Published in BMC Neurology (2024-11-01)
    Get full text
    Article


  15. 15

    Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

    Published in Molecular Genetics & Genomic Medicine (2025-01-01)
    Get full text
    Article


  16. 16

    Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases by Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi

    Published in BMC Medical Genomics (2024-01-01)
    Get full text
    Article


  17. 17

    Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome by Fatemeh Norouzi Rostami, Hossein Sadeghi, Farzad Hashemi-Gorji, Sahand Tehrani Fateh, Reza Mirfakhraie, Parvaneh Karimzadeh, Milad Davarpanah, Sanaz Jamshidi, Rasoul Madannejad, Parinaz Moghimi, Mahdis Ekrami, Mohammad Miryounesi, Mohammad-Reza Ghasemi

    Published in Heliyon (2024-03-01)
    Get full text
    Article


  18. 18

    Glycine N‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism by Mona Nourbakhsh, Mohammad Miryounesi, Ali Tale, Parvaneh Karimzadeh, Hossein Sadeghi, Mohammad‐Reza Ghasemi, Nasrin Alipour, Elham Pourbakhtyaran, Nakisa Hooman, Maryam Razzaghy‐Azar, Mitra Nourbakhsh, Lil Klaas, Daniel Schulke, Jörn Oliver Sass

    Published in JIMD Reports (2025-09-01)
    Get full text
    Article


  19. 19

    Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review by Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi

    Published in BMC Medical Genomics (2024-02-01)
    Get full text
    Article


  20. 20

    Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism by Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim

    Published in BMC Medical Genomics (2024-08-01)
    Get full text
    Article


Search Tools: