Nadia Al Hashmi
Muscat, MA, Oman
Last Updated: 09/26/2026
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Found 14 publications
Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.
Journal: Orphanet journal of rare diseases
Published: April 10, 2025
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Journal: Research square
Published: November 01, 2024
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Journal: Acta neuropathologica communications
Published: August 14, 2024
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Journal: JIMD reports
Published: January 21, 2024
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
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Journal: Orphanet journal of rare diseases
Published: June 13, 2023
Domino liver transplantation for maple syrup urine disease in children: A single-center case series.
Domino liver transplantation for maple syrup urine disease in children: A single-center case series.
Journal: Pediatric transplantation
Published: May 02, 2023
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Journal: Molecular genetics & genomic medicine
Published: February 11, 2023
Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.
Journal: Journal of pediatric genetics
Published: April 20, 2022
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
Journal: Journal of community genetics
Published: January 26, 2022
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 05, 2021
Last Updated: 09/26/2026