Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach
Maryami, Fereshteh, Rismani, Elham, Davoudi-Dehaghani, Elham, Khalesi, Nasrin, Motlagh, Fatemeh Zafarghandi, Kordafshari, Alireza, Talebi, Saeed, Rahimi, Hamzeh, Zeinali, Sirous
Published in Hereditas (29.05.2023)
Published in Hereditas (29.05.2023)
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Journal Article
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
Alaei, Mohammad Reza, Kheirkhahan, Meghdad, Talebi, Saeed, Davoudi-Dehaghani, Elham, Keramatipour, Mohammad
Published in Iranian biomedical journal (01.05.2020)
Published in Iranian biomedical journal (01.05.2020)
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Journal Article
Association of usf1s2 variant in the upstream stimulatory factor 1 gene with premature coronary artery disease in southern population of Iran
Najmeh Jouyan, Babak Saffari, Elham Davoudi-Dehaghani, Negar Saliani, Sara Senemar, Marzieh Bahari, Neda Jouyan, Mohammad Ali Ostovan
Published in Majallah-i Danishkadah-'i Pizishki (01.03.2015)
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Published in Majallah-i Danishkadah-'i Pizishki (01.03.2015)
Journal Article
In vivo and ex vivo gene therapy for neurodegenerative diseases: a promise for disease modification
Ebrahimi, Pouya, Davoudi, Elham, Sadeghian, Razieh, Zadeh, Amin Zaki, Razmi, Emran, Heidari, Reza, Morowvat, Mohammad Hossein, Sadeghian, Issa
Published in Naunyn-Schmiedeberg's archives of pharmacology (01.10.2024)
Published in Naunyn-Schmiedeberg's archives of pharmacology (01.10.2024)
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Journal Article
Minimally invasive nasal infusion (MINI) approach for CNS delivery of protein therapeutics: A case study with ovalbumin
Di Francesco, Valentina, Chua, Andy J., Davoudi, Elham, Kim, Jonghan, Bleier, Benjamin S., Amiji, Mansoor M.
Published in Journal of controlled release (01.08.2024)
Published in Journal of controlled release (01.08.2024)
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Journal Article
Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia
Maryami, Fereshteh, Davoudi-Dehaghani, Elham, Khalesi, Nasrin, Rismani, Elham, Rahimi, Hamzeh, Talebi, Saeed, Zeinali, Sirous
Published in Molecular genetics and genomics : MGG (01.07.2023)
Published in Molecular genetics and genomics : MGG (01.07.2023)
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Journal Article
5,10-methylene tetrahydrofolate reductase C677T gene polymorphism, homocysteine concentration and the extent of premature coronary artery disease in southern Iran
Senemar, Sara, Saffari, Babak, Sharifkazemi, Mohammad Bagher, Bahari, Marzieh, Jooyan, Najmeh, Dehaghani, Elham Davoudi, Yavarian, Majid
Published in EXCLI journal (01.01.2013)
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Published in EXCLI journal (01.01.2013)
Journal Article
Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran
Jouyan, Najmeh, Dehaghani, Elham Davoudi, Senemar, Sara, Shojaee, Ashraf, Mozdarani, Hossein
Published in International journal of reproductive biomedicine (Yazd, Iran) (01.03.2012)
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Published in International journal of reproductive biomedicine (Yazd, Iran) (01.03.2012)
Journal Article
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency
Maryami, Fereshteh, Rismani, Elham, Davoudi-Dehaghani, Elham, Khalesi, Nasrin, Talebi, Saeed, Mahdian, Reza, Zeinali, Sirous
Published in Iranian biomedical journal (01.09.2023)
Published in Iranian biomedical journal (01.09.2023)
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Journal Article
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran
Alimohammadi-Bidhendi, Sara, Azadmehr, Sarah, Razipour, Masoumeh, Zeinali, Sirous, Eslami, Maryam, Davoudi-Dehaghani, Elham
Published in Hemoglobin (02.01.2021)
Published in Hemoglobin (02.01.2021)
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Journal Article
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee
Published in American journal of human genetics (02.12.2021)
Published in American journal of human genetics (02.12.2021)
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Journal Article
Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis
Taghavi-Basmenj, Maryam, Razipour, Masoumeh, Davoudi-Dehaghani, Elham, Nasimi, Maryam, Abghari, Fateme Zahedi, Karimipoor, Morteza
Published in Dermatology online journal (15.03.2019)
Published in Dermatology online journal (15.03.2019)
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Journal Article
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A
Azadmehr, Sarah, Rahiminejad, Faezeh, Zafarghandi Motlagh, Fatemeh, Jamali, Mojdeh, Ghazizadeh Tehrani, Pardis, Shirzadeh, Tina, Bagherian, Hamideh, Karimipoor, Morteza, Davoudi-Dehaghani, Elham, Zeinali, Sirous
Published in Archives of Iranian medicine (01.12.2021)
Published in Archives of Iranian medicine (01.12.2021)
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Journal Article
A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect
Davoudi-Dehaghani, Elham, Zeinali, Sirous, Mahdieh, Nejat, Shirkavand, Atefeh, Bagherian, Hamideh, Tabatabaiefar, Mohammad Amin
Published in International journal of pediatric otorhinolaryngology (01.05.2013)
Published in International journal of pediatric otorhinolaryngology (01.05.2013)
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Journal Article
SLC26A4 pathogenic variants as a third cause of hearing loss: Role of three exons in DFNB4 deafness in Iran
Davoudi-Dehaghani, Elham, Mahdieh, Nejat, Shirkavand, Atefeh, Bagherian, Hamideh, DabbaghBagheri, Samira, Zeinali, Sirous
Published in Indian journal of otology (01.07.2019)
Published in Indian journal of otology (01.07.2019)
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Journal Article
Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing
Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Tavakkoly-Bazzaz, Javad, Bagherian, Hamideh, Zeinali, Sirous
Published in Acta oto-laryngologica (01.02.2015)
Published in Acta oto-laryngologica (01.02.2015)
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Journal Article
The first successful application of preimplantation genetic diagnosis for hearing loss in Iran
Karimi Yazdi, Alireza, Davoudi-Dehaghani, Elham, Rabbani Anari, Mahtab, Fouladi, Paanti, Ebrahimi, Elmira, Sabeghi, Solmaz, Eftekharian, Ali, Fatemi, Kiyana Sadat, Emami, Hamed, Sharifi, Zohreh, Ramezanzadeh, Fatemeh, Tajdini, Ardavan, Zeinali, Sirous, Amanpour, Saeid
Published in Cellular and Molecular Biology (30.06.2018)
Published in Cellular and Molecular Biology (30.06.2018)
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Journal Article