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UnknownConsolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Not available
S-EPMC8484551 | biostudies-literature
UnknownMeasures for the Core Outcome Set for Research Evaluating Interventions to Prevent and/or Treat Delirium in Critically Ill Adults: An International Consensus Study (Del-COrS).
Not available
S-EPMC10072315 | biostudies-literature
UnknownA biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Not available
S-EPMC8496849 | biostudies-literature
UnknownBiallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Not available
S-EPMC8963566 | biostudies-literature
UnknownA core outcome set for studies evaluating interventions to prevent and/or treat delirium for adults requiring an acute care hospital admission: an international key stakeholder informed consensus study.
Not available
S-EPMC8211534 | biostudies-literature
UnknownBiallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Not available
S-EPMC10584193 | biostudies-literature
UnknownImpaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.
Not available
S-EPMC12817337 | biostudies-literature
UnknownTMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Not available
S-EPMC9473353 | biostudies-literature
UnknownSLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Not available
S-EPMC10629776 | biostudies-literature
UnknownUncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Not available
S-EPMC9691823 | biostudies-literature
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