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UnknownSingle-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
Not available
S-EPMC2987255 | biostudies-literature
UnknownRefined characterization of the expression and stability of the SMN gene products.
Not available
S-EPMC1988876 | biostudies-literature
UnknownMutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Not available
S-EPMC1288552 | biostudies-literature
UnknownNovel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Not available
S-EPMC9958991 | biostudies-literature
UnknownSegregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
Not available
S-EPMC3058134 | biostudies-literature
UnknownPoor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.
Not available
S-EPMC3071907 | biostudies-literature
UnknownUpdate on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Not available
S-EPMC5217205 | biostudies-literature
UnknownNovel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Not available
S-EPMC7940479 | biostudies-literature
UnknownPyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Not available
S-EPMC5471145 | biostudies-literature
UnknownBurden of grade 3 or 4 liver injury associated with immune checkpoint inhibitors.
Not available
S-EPMC10701119 | biostudies-literature
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