Associated Papers
Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.
Brea-Iglesias J et al.
Molecular Oncology, 2025
40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M et al.
Orphanet Journal of Rare Diseases, 2023
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M et al.
Annals of Clinical and Translational Neurology, 2019
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M et al.
Neuropediatrics, 2018
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD et al.
Annals of Neurology, 2017
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Ferreira CR et al.
American Journal of Medical Genetics. Part A, 2017
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].
Imagawa E et al.
Clinical Calcium, 2016
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
Kohrogi K et al.
Journal of Human Genetics, 2015
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