Výsledky vyhledávání - "Pardis Ghazizadeh Tehrani"

Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran

Autor: Pardis Ghazizadeh Tehrani, Mohammad Taheri, Masoume Amini, Mehrdad Hashemi, Maryam Abiri, Razieh Zeinali, Mohammad-Sadegh Fallah, Hossein Farahzadi, Fatemeh Golnabi, Zohreh Sharifi, Hamideh Bagherian, Sadaf Asnavandi, Flora Forouzesh, Sirous Zeinali, Marjan Alborji

Publikováno v: Journal of Molecular Neuroscience. 71:2281-2298

Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness, hypotonia and muscle atrophy, with different modes of inheritance; however, the survival motor neuron 1 (SMN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4555c388f4b725a836efb7f9d13af9e8
https://doi.org/10.1007/s12031-020-01789-0

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The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A

Autor: Sarah Azadmehr, Faezeh Rahiminejad, Fatemeh Zafarghandi Motlagh, Mojdeh Jamali, Pardis Ghazizadeh Tehrani, Tina Shirzadeh, Hamideh Bagherian, Morteza Karimipoor, Elham Davoudi-Dehaghani, Sirous Zeinali

Publikováno v: Archives of Iranian medicine. 24(12)

Background: Hemophilia A (HA) is an X-linked recessive bleeding disorder with a high rate of genetic heterogeneity. The present study was conducted on a large cohort of Iranian HA patients and data obtained from databases. Methods: A total of 622 Ira

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e2dbddcd4adc891975585c7f7112c5
https://pubmed.ncbi.nlm.nih.gov/35014236

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