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International Journal of Audiology|November 15, 2013
Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf familyElham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Tina Shirzad, et al.
Molecular Genetics and Genomics : MGG|May 2, 2023
Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemiaFereshteh Maryami, Elham Davoudi-Dehaghani, Nasrin Khalesi, et al.
Orphanet Journal of Rare Diseases|December 7, 2017
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndromeLeila Youssefian, Andrew Touati, Amir Hossein Saeidian, et al.
Scientific Reports|June 13, 2026
Genetic profiling enhances cystic fibrosis prenatal diagnosisAmin Hosseini Nami, Mahboubeh Kabiri, Fatemeh Zafarghandi Motlagh, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 30, 2016
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinityMaryam Abiri, Saeed Talebi, Jouni Uitto, et al.
Cancer Biomarkers : Section a of Disease Markers|May 24, 2021
Improved microsatellite instability detection in colorectal cancer patients by a combination of fourteen markers especially DNMT3a, DCD, and MT1XAli Khaligh, Mohammad Sadegh Fazeli, Habibollah Mahmoodzadeh, et al.
Clinical Biochemistry|May 15, 2009
Validation and comparison of two quantitative real-time PCR assays for direct detection of DMD/BMD carriersMina Hayat Nosaeid, Reza Mahdian, Somayeh Jamali, et al.
Medical Journal of the Islamic Republic of Iran|April 14, 2020
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in <i>SMPD1</i> geneFateme Zahedi Abghari, Fatemeh Bayat, Masoumeh Razipour, et al.
Monoclonal Antibodies in Immunodiagnosis and Immunotherapy|April 22, 2015
Camel Heavy Chain Polyclonal Antibody Raised Against Recombinant Murine Placental Growth Factor Expressed in Escherichia coliRoghaye Arezumand, Mahdi Behdani, Reza Mahdian, et al.
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