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 › S1__MITNGS_S1_
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Pujol C et al.
Brain : a Journal of Neurology, 2023
36417180 (PubMed )
Supplement: awac444_supplementary_data.zip › brain-2022-01298-File006.pdf
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
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
[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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