Publications:

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

Bmc Medical Genomics

Al Qurashi, Mansour M; Mustafa, Ahmed A; Aga, Syed Sameer SS; Ahmad, Abrar A; El-Farra, Abdellatif A; Shawli, Aiman A; Al Hindi, Mohammed M; Hasosah, Mohammed M

Publication Date: 2022-03-19

Variant appearance in text: HR: 464C>G

PubMed Link: 35305621

Variant Present in the following documents:

• 12920_2022_Article_1210.pdf

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Value within otolaryngology: Assessment of the cost-utility analysis literature.

World Journal Of Otorhinolaryngology - Head And Neck Surgery

Patel, Krupa R KR; Phillips, David J DJ; Leibowitz, Jason M JM; Scognamiglio, Theresa T; Banuchi, Victoria E VE; Kuhel, William I WI; Kutler, David I DI; Cohen, Marc A MA

Publication Date: 2016-03

Variant appearance in text: HR: A155G

PubMed Link: 29204546

Variant Present in the following documents:

• main.pdf

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A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

African Journal Of Paediatric Surgery : Ajps

Ibekwe, Titus S TS; Bhimrao, Sanjiv K SK; Westerberg, Brian D BD; Kozak, Frederick K FK

Publication Date: 2015

Variant appearance in text: HR: A155G

PubMed Link: 26168747

Variant Present in the following documents:

• AJPS-12-105.pdf

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