Concepedia
Statistics
Publications
18
Citations
1.1K
H-Index
16
Active since
2004
Affiliations
Jahra Hospital(Current)
King Faisal Specialist Hospital & Research Centre
Ministry of Health
Alfaisal University
King Saud bin Abdulaziz University for Health Sciences
Nawal Makhseed is an author at Jahra Hospital specializing in life sciences, molecular genetics, and genetics.
Publications per year
2004–2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 309 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 283 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici et al. · Journal of Inherited Metabolic Disease · 2015 · 67 citations · Full text
Life Sciences, Molecular Medicine, Pharmacotherapy +12
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
Sara Musa, Wafaa Eyaid, Kimberli J. Kamer et al. · JIMD Reports · 2018 · 65 citations · Full text
<i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect
Kyle Metz, Xinchen Teng, Isabelle Coppens et al. · Annals of Neurology · 2018 · 61 citations · Full text
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