Nawal Makhseed
Kuwait City, KU, Kuwait
Last Updated: 09/26/2026
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Found 19 publications
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Journal: Orphanet journal of rare diseases
Published: November 24, 2023
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Journal: Orphanet journal of rare diseases
Published: February 20, 2023
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Journal: Orphanet journal of rare diseases
Published: June 15, 2022
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Journal: American journal of human genetics
Published: October 05, 2019
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
Journal: Human genetics
Published: December 31, 2018
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Journal: Orphanet journal of rare diseases
Published: December 20, 2018
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Journal: American journal of human genetics
Published: December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Journal: Clinical genetics
Published: June 26, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Journal: Annals of neurology
Published: January 29, 2018
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
Journal: JIMD reports
Published: September 05, 2017
Last Updated: 09/26/2026