Maha Alotaibi

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 2

Top Topics

Intellectual Disability

Top Venues

Case reports in pediatrics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Maha Alotaibi, Ali Aldossari, Imran Khan, Leena Alotaibi
Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. Case reports in pediatrics 2022 (2022)
Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, Malak Ali AlGhamdi, Jozef L Hertecant, Amir Ariamand, Christian Beetz, Arndt Rolfs, Aida Maria Bertoli-Avella, Peter Bauer
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. Clinical genetics 99 (4) (2021)