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List of works by Khalid Al-Thihli

Deficiency of Acyl-CoA Synthetase 5 (ACSL5) is Associated with a Severe and Treatable Failure to Thrive of Neonatal Onset

scientific article published on 15 November 2020

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23

scientific article published on 06 December 2019

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities

scientific article published on 25 June 2018

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

scientific article published on 12 September 2018

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