Publications by authors named "Mahsa Fadaee"

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Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian, Fatemeh Ahangari, Mahsa Fadaee

Sci Rep· November 2025

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DOK7 congenital myasthenic syndrome: case series and review of literature.
Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani, Narges Karimi, Mahsa Fadaee

BMC Neurol· June 2024

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan

NPJ Genom Med· February 2024

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Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee

Arch Iran Med· December 2022

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and ; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Shahrouz Khoshbakht, Maryam Beheshtian, Zohreh Fattahi, Niloofar Bazazzadegan, Elham Parsimehr, Mahsa Fadaee

Arch Iran Med· May 2021

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Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Maryam Beheshtian, Tara Akhtarkhavari, Sepideh Mehvari, Marzieh Mohseni, Zohreh Fattahi, Mahsa Fadaee

Clin Genet· January 2021

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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Niloofar Bazazzadegan, Raheleh Vazehan, Mahsa Fadaee, Zohreh Fattahi, Ayda Abolhassani

Iran J Public Health· October 2019

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Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Maryam Beheshtian, Zohreh Fattahi, Mahsa Fadaee, Raheleh Vazehan, Payman Jamali

Clin Genet· June 2019

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De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Masoud Edizadeh, Raheleh Vazehan, Fatemeh Javadi, Shima Dehdahsi, Mahsa Fadaee

Arch Iran Med· September 2017

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Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Mahsa Fadaee, Ariana Kariminejad, Zohreh Fattahi, Shahriar Nafissi, Hamed Reza Godarzi

Neuromuscul Disord· January 2017

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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.
Mehrshid Faraji Zonooz, Farahnaz Sabbagh-Kermani, Zohreh Fattahi, Mahsa Fadaee, Mohammad Reza Akbari

J Invest Dermatol· June 2016

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Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
Giti Esmail Nia, Mahsa Fadaee, Robert Royer, Hossein Najmabadi, Mohammad R Akbari

Arch Iran Med· April 2016

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Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.
Zohreh Fattahi, Kimia Kahrizi, Shahriar Nafissi, Mahsa Fadaee, Seyedeh Sedigheh Abedini

Arch Iran Med· January 2015

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