genetic heterogeneity

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

Electron Microscopy / DNA / Mitochondrial DNA / Humans / Clinical / Male / Infant / Electron Transport / nuclear DNA / Newborn Infant / Cell nucleus / Hybrid Solar Cells / Clinical Investigation / DNA mutational analysis / Complex I / fibroblasts / genetic heterogeneity / Male / Infant / Electron Transport / nuclear DNA / Newborn Infant / Cell nucleus / Hybrid Solar Cells / Clinical Investigation / DNA mutational analysis / Complex I / fibroblasts / genetic heterogeneity

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Epidemiology / Medical Genetics / Molecular Genetics / Biological Sciences / Humans / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity

Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing

Science / Multidisciplinary / Humans / Mutation / Exome / Adenocarcinoma / DNA mutational analysis / genetic heterogeneity / Adenocarcinoma / DNA mutational analysis / genetic heterogeneity

Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

Intellectual Disability / Congenital Heart Defects / Humans / Child / Hair / Female / Male / Infant / Skin / Cryptorchidism / Dwarfism / Facies / Noonan syndrome / Amino Acid Substitution Rates / Medicina Clinica / K Map / Ectodermal Dysplasia / DNA mutational analysis / Child preschool / genetic heterogeneity / Female / Male / Infant / Skin / Cryptorchidism / Dwarfism / Facies / Noonan syndrome / Amino Acid Substitution Rates / Medicina Clinica / K Map / Ectodermal Dysplasia / DNA mutational analysis / Child preschool / genetic heterogeneity

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