Associated Papers
Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
Li YX et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.
Turk A et al.
Scientific Reports, 2025
40592943 (PubMed )
Supplement: 41598_2025_4741_MOESM1_ESM.xlsx › Table_S1
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
Slavec L et al.
International Journal of Molecular Sciences, 2023
36901693 (PubMed )
Supplement: ijms-24-04262-s001.zip › ijms-2089997-supplementary.pdf
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2021
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.
Gales A et al.
Orphanet Journal of Rare Diseases, 2018
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
Select a paper to view details