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UnknownClinical Utility Gene Card for: incontinentia pigmenti.
Not available
S-EPMC3722938 | biostudies-literature
UnknownClinical utility gene card: for incontinentia pigmenti.
Not available
S-EPMC6871521 | biostudies-literature
UnknownSingle-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
Not available
S-EPMC2987255 | biostudies-literature
UnknownStability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Not available
S-EPMC2597968 | biostudies-literature
UnknownIntrafamilial Variability in LPIN1-Related Rhabdomyolysis
Not available
S-EPMC7445576 | biostudies-literature
UnknownSegregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
Not available
S-EPMC3058134 | biostudies-literature
UnknownKnowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
Not available
S-EPMC10310597 | 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
UnknownNovel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Not available
S-EPMC9958991 | 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
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