Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
A murine model of BSCL2-associated Celia's encephalopathy.
Cobelo-Gómez S et al.
Neurobiology of Disease, 2023
Seipin: from human disease to molecular mechanism.
Cartwright BR et al.
Journal of Lipid Research, 2012
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