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UnknownDesmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Not available
S-EPMC4995031 | biostudies-literature
UnknownMitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
Not available
S-EPMC2747647 | biostudies-literature
UnknownMolecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Not available
S-EPMC4861085 | biostudies-literature
UnknownGenomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Not available
S-EPMC3227222 | biostudies-literature
UnknownSeverity modeling of propionic acidemia using clinical and laboratory biomarkers.
Not available
S-EPMC8354856 | biostudies-literature
UnknownIncreased LIS1 expression affects human and mouse brain development.
Not available
S-EPMC4396744 | biostudies-literature
UnknownAn international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Not available
S-EPMC4073084 | biostudies-literature
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