Associated Papers
Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.
Trilla P et al.
Cellular and Molecular Neurobiology, 2026
FITM2-Related Siddiqi Syndrome in Two Iranian Siblings.
Ahmadi R et al.
Clinical Case Reports, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Partial loss of FITM2 function causes hereditary spastic paraplegia.
Salazar-Villacorta A et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Pareja F et al.
Nature Communications, 2018
30166553 (PubMed )
Supplement: 41467_2018_5886_MOESM1_ESM.pdf
Select a paper to view details