Concepedia

Fatima Almusafri

FA

4

Publications

293

Citations

4

H-Index

2017

Active since

Affiliations

Hamad Medical Corporation(Current)

University of Cologne

Assistance Publique – Hôpitaux de Paris

Fatima Almusafri is an author at Hamad Medical Corporation specializing in medicine, molecular genetics, and genetics.

Top concepts

Publications per year

2017–2020

4

Publications

4

Molecular autopsy in maternal–fetal medicine

Hanan E. Shamseldin, Wesam Kurdi, Fatima Almusafri et al. · Genetics in Medicine · 2017 · 123 citations · Full text

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Peter Huppke, Joseph A. Church, Rhonda E. Schnur et al. · Nature Communications · 2017 · 86 citations · Full text

Genetic variants in the <i>KDM6B</i> gene are associated with neurodevelopmental delays and dysmorphic features

Elliot Stolerman, E. Nicolás Francisco, Jennifer L. Stallworth et al. · American Journal of Medical Genetics Part A · 2019 · 52 citations

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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Jessica X. Chong, Jared C. Talbot, Emily M. Teets et al. · The American Journal of Human Genetics · 2020 · 32 citations · Full text

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