Almundher A. Maawali-Al
Muscat, MA, Oman
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 66 publications
Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.
Journal: Clinical dysmorphology
Published: March 12, 2026
Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.
Journal: Clinical genetics
Published: January 30, 2026
Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.
Journal: The Journal of clinical investigation
Published: June 10, 2025
Genetic Characterization of Primary Ciliary Dyskinesia in a Consanguineous Population: Insights From the Largest Middle Eastern Cohort.
Journal: Pediatric pulmonology
Published: March 03, 2025
Single-centre comparison of non-familial, familial and monogenic lupus.
Journal: Rheumatology (Oxford, England)
Published: January 27, 2025
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Journal: Research square
Published: November 01, 2024
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Journal: American journal of human genetics
Published: October 08, 2024
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Journal: Acta neuropathologica communications
Published: August 14, 2024
Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.
Journal: Oman medical journal
Published: July 25, 2024
Last Updated: 09/26/2026