Laila A. Bastaki

Ash Shuwaykh, KU, Kuwait

Last Updated: 09/26/2026

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Found 29 publications

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Journal: Global medical genetics

Published: March 18, 2026

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances

Published: November 26, 2025

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation.

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation.

Journal: HGG advances

Published: November 17, 2025

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.

Journal: American journal of medical genetics. Part A

Published: August 14, 2025

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

Journal: American journal of medical genetics. Part A

Published: June 21, 2025

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

Journal: American journal of medical genetics. Part A

Published: February 26, 2025

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Journal: International journal of neonatal screening

Published: January 24, 2025

Correction: AlTawari et al. Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait. Neurol. Int. 2024, 16, 631-642.

Correction: AlTawari et al. Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait. Neurol. Int. 2024, 16, 631-642.

Journal: Neurology international

Published: August 22, 2024

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

Journal: Brain : a journal of neurology

Published: June 25, 2024

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

Journal: Neurology international

Published: April 16, 2024

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

Journal: Neurology international

Published: April 16, 2024

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait.

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait.

Journal: Heliyon

Published: April 09, 2024

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Last Updated: 09/26/2026