Associated Papers
Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.
Farsana MK et al.
Neurology India, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
39053894 (PubMed )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
Habibzadeh P et al.
Frontiers in Neurology, 2019
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