11 results on '"Lines, Matthew A"'
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2. Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation
3. Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
4. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
5. Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
6. A new automated tool to quantify nucleoid distribution within mitochondrial networks
7. Clinical study of FDXR-related mitochondriopathy: genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
8. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
9. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
10. Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation
11. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
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