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List of works by Almundher Al-Maawali

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

Further phenotypic delineation of Alazami syndrome

scientific article published in 2022

Hereditary Spastic Paraplegia Associated With Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family ⬇️

scientific article published on March 1, 2011

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease

scientific article published on 30 July 2018

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

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

scientific article published on 06 December 2019

Phenotypic spectrum of ALPK3-related cardiomyopathy

scientific article published on 10 May 2019

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

scientific article published on 12 September 2018

The expanding spectrum of neurological disorders of phosphoinositide metabolism

scientific article published on 13 August 2019

Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants

scientific article published on 09 September 2020

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