Amerh Alqahtani

Efficacy of low dose nitisinone in the management of alkaptonuria

Natacha Sloboda, Arnaud Wiedemann, Marc Merten et al. · Molecular Genetics and Metabolism · 2019 · 27 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +2

Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome

Audrey Putoux, Amerh Alqahtani, L Pinson et al. · Clinical Genetics · 2016 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia

Mariam M. Al Eissa, Fahad Almsned, Reem R. Alkharji et al. · BMC Public Health · 2024 · 20 citations · Full text

Life Sciences, Genetics, Population Health Sciences +14

Prospect of genetic disorders in Saudi Arabia

Amerh Alqahtani, Raniah S. Alotibi, Taghrid Aloraini et al. · Frontiers in Genetics · 2023 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

T. Dery, Nicolas Chatron, Amerh Alqahtani et al. · European Journal of Medical Genetics · 2020 · 13 citations

Life Sciences, Genetics, Molecular Genetics +11