Amal J. Al Tenaiji
Abu Dhabi, AZ, United Arab Emirates
Last Updated: 09/26/2026
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Found 12 publications
Large-Scale Premarital Genetic Screening in the United Arab Emirates.
Journal: The New England journal of medicine
Published: July 15, 2026
Severe SPTBN4-Related Neurodevelopmental Disorder: Case Report of Two Siblings with Lethal Outcomes.
Severe SPTBN4-Related Neurodevelopmental Disorder: Case Report of Two Siblings with Lethal Outcomes.
Journal: Journal of molecular neuroscience : MN
Published: January 15, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 24, 2025
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
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.
Journal: JIMD reports
Published: October 08, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Journal: Frontiers in molecular biosciences
Published: June 21, 2024
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.
Journal: Scientific reports
Published: April 13, 2024
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.
Journal: Genes
Published: July 30, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Journal: Human mutation
Published: October 19, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Journal: American journal of human genetics
Published: September 23, 2020
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2020
Microcephaly and intracranial calcifications: Not always TORCH infection!
Journal: Journal of paediatrics and child health
Published: May 14, 2019
Showing 1-12 of 12
Last Updated: 09/26/2026