Laila Alquait
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 9 publications
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population.
Journal: Pulmonary circulation
Published: March 17, 2021
A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome.
Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
Published: March 03, 2021
Genetics of ataxia telangiectasia in a highly consanguineous population.
Journal: Annals of human genetics
Published: July 20, 2020
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Journal: JIMD reports
Published: June 24, 2020
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Journal: Omics : a journal of integrative biology
Published: February 28, 2020
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Journal: Acta neuropathologica
Published: December 23, 2019
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Journal: Neuromuscular disorders : NMD
Published: October 10, 2019
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Journal: European journal of neurology
Published: April 24, 2019
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Journal: Molecular cytogenetics
Published: September 13, 2017
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Last Updated: 09/26/2026