Výsledky vyhledávání - "Ariane Sadrnabavi"

Akademický článek

PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran

Autor: Reza Jafarzadeh Esfehani, Atieh Eslahi, Mehran Beiraghi Toosi, Ariane Sadrnabavi, Mohammad Amin Kerachian, Mahsa Sadat Mohajeri Asl, Mahsa Farjami, Farzaneh Alizadeh, Majid Mojarad

Publikováno v: Iranian Journal of Basic Medical Sciences, Vol 24, Iss 9, Pp 1190-1195 (2021)

Objective(s): Infantile neuroaxonal degeneration (INAD) is a rare subgroup of neurodegeneration with brain iron accumulation (NBIA) disorders. This progressive disorder may develop during the early years of life. Affected individuals mostly manifest

Externí odkaz: https://doaj.org/article/1fc333edf17f421fae6747ceeffc028f

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Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran

Autor: Samaneh, Vojdani, Reza, Jafarzadeh Esfehani, Vahid, Iranmanesh, Hafezeh, Davari, Nafiseh, Amini, Mohammad Ehsan, Jaripour, Peyman, Zargari, Mahtab, Dastpak, Ariane, Sadrnabavi

Publikováno v: Iranian Journal of Otorhinolaryngology

Introduction: Hearing impairment is a complex medical disorder which has genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e2795b647450838102c499925f5b76ea
https://pubmed.ncbi.nlm.nih.gov/30989077

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