Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Zarghuna M A, Shinwari"'
Autor:
Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-11 (2018)
Abstract Background Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associ
Externí odkaz:
https://doaj.org/article/238fd9ac89634a798995c2454c74671b
Autor:
Zarghuna M A, Shinwari, Abdulrahman, Almesned, Ali, Alakhfash, Ahmad M, Al-Rashdan, Eissa, Faqeih, Zainab, Al-Humaidi, Ahmed, Alomrani, Malak, Alghamdi, Dilek, Colak, Abdullah, Alwadai, Monther, Rababh, Majid, Al-Fayyadh, Zuhair N, Al-Hassnan
Publikováno v:
Cardiology. 137(3)
Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were rep