Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S3__MITNGS_S3_
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis.
Negro A et al.
Journal of Hypertension, 2020
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
30680959 (PubMed )
Supplement: MGG3-7-na-s003.xlsx › Affected_brother
[Single nucleotide polymorphisms of the genes related with spermatogenesis impairment].
Ying HQ et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2011
Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.
Bonache S et al.
International Journal of Andrology, 2007
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