Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Por Omid Daneshjoo, Masoud Garshasbi
Publicado em 2018-03-01

miR-31 and miR-145 as potential non-invasive regulatory biomarkers in patients with endometriosis

Por Oranous Bashti, Mehrdad Noruzinia, Masoud Garshasbi, Morteza Abtahi
Publicado em 2018-01-01

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

Por Ehsan Razmara, Fatemeh Bitarafan, Elika Esmaeilzadeh-Gharehdaghi, Navid Almadani, Masoud Garshasbi
Publicado em 2018-03-01

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

Por Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi
Publicado em 2020-08-01

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

Por Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi
Publicado em 2020-10-01

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

Por Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli
Publicado em 2019-07-01

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.

Por Marc Trimborn, Mahdi Ghani, Diego J Walther, Monika Dopatka, Véronique Dutrannoy, Andreas Busche, Franziska Meyer, Stefanie Nowak, Jean Nowak, Claus Zabel, Joachim Klose, Veronica Esquitino, Masoud Garshasbi, Andreas W Kuss, Hans-Hilger Ropers, Susanne Mueller, Charlotte Poehlmann, Ioannis Gavvovidis, Detlev Schindler, Karl Sperling, Heidemarie Neitzel
Publicado em 2010-01-01