Associated Papers
Targeting tumoral heterogeneity in lung cancer: a novel, CT-texture-guided targeted biopsy approach with exome sequencing.
Hertel A et al.
Npj Precision Oncology, 2025
Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Chou YT et al.
Annals of Clinical and Translational Neurology, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
Schiavoni S et al.
Developmental Medicine and Child Neurology, 2020
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.
Gbadegesin RA et al.
Journal of the American Society of Nephrology : Jasn, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0ER-01A.domain
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A et al.
Plos One, 2013
23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
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