Associated Papers
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
37649104 (PubMed )
Supplement: 13039_2023_654_MOESM1_ESM.xlsx › Sheet1
Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.
Jaouadi H et al.
Clinical Case Reports, 2022
35341025 (PubMed )
Supplement: CCR3-10-e05339-s001.xlsx › Feuil1
Integrative multiplatform molecular profiling of benign prostatic hyperplasia identifies distinct subtypes.
Liu D et al.
Nature Communications, 2020
32332823 (PubMed )
Supplement: 41467_2020_15913_MOESM6_ESM.xlsx › Sheet1
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
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
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_1
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
Damgaard RB et al.
Cell, 2016
27523608 (PubMed )
Supplement: mmc2.xlsx › Homozygous_Variants_S2
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