Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease

por Razmara, Ehsan, Garshasbi, Masoud
Publicado 2018

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

por Razmara, Ehsan, Bitarafan, Fatemeh, Esmaeilzadeh-Gharehdaghi, Elika, Almadani, Navid, Garshasbi, Masoud
Publicado 2018

How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us

por Farhadi, Mohammad, Razmara, Ehsan, Balali, Maryam, Hajabbas Farshchi, Yeganeh, Falah, Masoumeh
Publicado 2021

SMAD4 contributes to chondrocyte and osteocyte development

por Pakravan, Katayoon, Razmara, Ehsan, Mahmud Hussen, Bashdar, Sattarikia, Fatemeh, Sadeghizadeh, Majid, Babashah, Sadegh
Publicado 2021

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

por Bitarafan, Fatemeh, Razmara, Ehsan, Khodaeian, Mehrnoosh, Keramatipour, Mohammad, Kalhor, Alireza, Jafarinia, Ehsan, Garshasbi, Masoud
Publicado 2020

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

por Sepahvand, Afrooz, Razmara, Ehsan, Bitarafan, Fatemeh, Galehdari, Mohammad, Tavasoli, Ali Reza, Almadani, Navid, Garshasbi, Masoud
Publicado 2020

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

por Khalesi, Raziyeh, Razmara, Ehsan, Asgaritarghi, Golareh, Tavasoli, Ali Reza, Riazalhosseini, Yasser, Auld, Daniel, Garshasbi, Masoud
Publicado 2021

Non-Coding RNAs in Cartilage Development: An Updated Review

por Razmara, Ehsan, Bitaraf, Amirreza, Yousefi, Hassan, Nguyen, Tina H., Garshasbi, Masoud, Cho, William Chi-shing, Babashah, Sadegh
Publicado 2019

Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy

por KHODAENIA, Negar, FARJAMI, Zahra, ASHNAEI, Amir Hosein, EBRAHIMI, Neshat, CHELVARFOROOSH, Navid, URTIZBEREA, Andoni, RAZMARA, Ehsan, HOUSHMAND, Massoud
Publicado 2021

Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

por Razmara, Ehsan, Azimi, Homeyra, Bitaraf, Amirreza, Daneshmand, Mohammad Ali, Galehdari, Mohammad, Dokhanchi, Maryam, Esmaeilzadeh‐Gharehdaghi, Elika, Garshasbi, Masoud
Publicado 2020

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

por Zardadi, Safoura, Razmara, Ehsan, Asgaritarghi, Golareh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Rayat, Sima, Almadani, Navid, Morovvati, Saeid, Garshasbi, Masoud
Publicado 2020

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report

por Zardadi, Safoura, Razmara, Ehsan, Rasoulinezhad, Maryam, Babaei, Meisam, Ashrafi, Mohammad Reza, Pak, Neda, Garshasbi, Masoud, Tavasoli, Ali Reza
Publicado 2022

Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T‐ARMS‐PCR assay

por Jalessi, Maryam, Gholami, Mohammad Saeed, Razmara, Ehsan, Hassanzadeh, Sajad, Sadeghipour, Alireza, Jahanbakhshi, Amin, Tabibkhooei, Alireza, Bahrami, Eshagh, Falah, Masoumeh
Publicado 2021

The expression analysis of Fra-1 gene and IL-11 protein in Iranian patients with ulcerative colitis

por Sabzevary-Ghahfarokhi, Milad, Shohan, Mojtaba, Shirzad, Hedayatollah, Rahimian, Ghorbanali, Bagheri, Nader, Soltani, Amin, Deris, Fatemeh, Ghatreh-Samani, Mahdi, Razmara, Ehsan
Publicado 2018

Identification of a six‐microRNA signature as a potential diagnostic biomarker in breast cancer tissues

por Mahmoudian, Mojdeh, Razmara, Ehsan, Mahmud Hussen, Bashdar, Simiyari, Mandana, Lotfizadeh, Nazanin, Motaghed, Hoda, Khazraei Monfared, Arefeh, Montazeri, Maryam, Babashah, Sadegh
Publicado 2021

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

por Aryan, Hajar, Razmara, Ehsan, Farhud, Dariush, Zarif-Yeganeh, Marjan, Zokaei, Shaghayegh, Hassani, Seyed Abbas, Ashrafi, Mahmoud Reza, Garshasbi, Masoud, Tavasoli, Ali Reza
Publicado 2020