Concepedia
Statistics
Publications
3
Citations
119
H-Index
Active since
2017
Affiliations
King Abdulaziz Medical City(Current)
Boston Children's Hospital
King Faisal Specialist Hospital & Research Centre
King Saud bin Abdulaziz University for Health Sciences
Manal Afqi is an author at King Abdulaziz Medical City specializing in genetics, life sciences, and molecular genetics.
Publications per year
2017–2023
<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai et al. · Human Mutation · 2017 · 64 citations · Full text
Life Sciences, Genetics, Molecular Biology +15
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj et al. · Genome Medicine · 2023 · 33 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Biallelic loss of function variant in the unfolded protein response gene <i>PDIA6</i> is associated with asphyxiating thoracic dystrophy and <scp>neonatal‐onset</scp> diabetes
Fatima Alfadhli, Manal Afqi, Mona Hamza Sairafi et al. · Clinical Genetics · 2021 · 22 citations
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