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List of works by Aisha Al Shamsi

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

scientific article published on 28 September 2020

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

scientific article

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

scientific article published on 26 March 2015

Mutation spectrum of Joubert syndrome and related disorders among Arabs

scientific article published on 6 November 2014

Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review

scientific article published in 2022

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