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_Likely_Pathogenic
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report.
Xie S et al.
Frontiers in Behavioral Neuroscience, 2025
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
Helgadottir HT et al.
Scientific Reports, 2021
Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.
Krieg SI et al.
Orphanet Journal of Rare Diseases, 2020
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
Zhao S et al.
Clinical Genetics, 2018
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