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 › CASE_REPORT___MITNGS22_03_
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 2023
36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA et al.
Brain : a Journal of Neurology, 2010
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE et al.
Bmc Genetics, 2007
17601350 (PubMed )
Supplement: 1471-2156-8-43-S1.doc
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