Associated Papers
Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.
Redha N et al.
Journal of Central Nervous System Disease, 2024
38550250 (PubMed )
Supplement: sj-pdf-1-cns-10.1177_11795735241241423.pdf
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 › S5__MITNGS_S5_
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6
Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.
Falcão de Campos C et al.
Case Reports in Neurological Medicine, 2019
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