Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels

por Shestak, Anna G., Bukaeva, Anna A., Saber, Siamak, Zaklyazminskaya, Elena V.
Publicado 2021

A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss

por Sadeghi, Zahra, Chavoshi Tarzjani, Seyedeh Parisa, Miri Moosavi, Reyhaneh Sadat, Saber, Siamak, Ebrahimi, Ahmad
Publicado 2020

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

por Akbaroghli, Susan, Balali, Maryam, Kamalidehghan, Behnam, Saber, Siamak, Aryani, Omid, Meng, Goh Yong, Houshmand, Massoud
Publicado 2016

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

por Amirian, Azam, Zafari, Zahra, Karimipoor, Morteza, Kordafshari, Alireza, Dalili, Mohammad, Saber, Siamak, Fazelifar, Amir Farjam, Zeinali, Sirous
Publicado 2019

Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

por Amirian, Azam, Dalili, Seyed Mohammad, Zafari, Zahra, Saber, Siamak, Karimipoor, Morteza, Akbari, Vahid, Fazelifar, Amir Farjam, Zeinali, Sirous
Publicado 2018

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

por Amirian, Azam, Zafari, Zahra, Dalili, Mohammad, Saber, Siamak, Karimipoor, Morteza, Dabbagh Bagheri, Samira, Fazelifar, Amir Farjam, Zeinali, Sirous
Publicado 2018

Complex genetic background in a large family with Brugada syndrome

por Saber, Siamak, Amarouch, Mohamed‐Yassine, Fazelifar, Amir‐Farjam, Haghjoo, Majid, Emkanjoo, Zahra, Alizadeh, Abolfath, Houshmand, Massoud, Gavrilenko, Alexander V., Abriel, Hugues, Zaklyazminskaya, Elena V.
Publicado 2015