Hasil Pencarian - Navid Almadani
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Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3 oleh Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Diterbitkan 2021-11-01
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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family oleh Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi
Diterbitkan 2020-10-01
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Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss oleh Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Diterbitkan 2020-12-01
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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 oleh Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah
Diterbitkan 2023-10-01
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Elucidating the spectrum of α-thalassemia mutations in Iran oleh Valeh Hadavi, Amir Hossein Taromchi, Mahdi Malekpour, Behjat Gholami, Hai-Yang Law, Navid Almadani, Fariba Afroozan, Farhad Sahebjam, Parisa Pajouh, Roxana Kariminejad, Mohammad Hassan Kariminejad, Azita Azarkeivan, Maryam Jafroodi, Ahmad Tamaddoni, Helene Puehringer, Christian Oberkanins, Hossein Najmabadi
Diterbitkan 2007-07-01
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