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UnknownA Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
Not available
S-EPMC4957867 | biostudies-literature
UnknownMono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Not available
S-EPMC11023922 | biostudies-literature
UnknownPhenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Not available
S-EPMC3843540 | biostudies-literature
UnknownOnline, Group-Based Psychological Support for Adolescent and Young Adult Cancer Survivors: Results from the Recapture Life Randomized Trial.
Not available
S-EPMC8158368 | biostudies-literature
UnknownClinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Not available
S-EPMC5933354 | biostudies-literature
Unknown[18F]-fluoroethyl-L-tyrosine (FET) in glioblastoma (FIG) TROG 18.06 study: protocol for a prospective, multicentre PET/CT trial.
Not available
S-EPMC10407346 | biostudies-literature
UnknownAlteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Not available
S-EPMC3710753 | biostudies-literature
UnknownSearch for supersymmetry in pp collisions at [Formula: see text] TeV in events with a single lepton, jets, and missing transverse momentum.
Not available
S-EPMC4370766 | biostudies-literature
UnknownGain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Not available
S-EPMC4004585 | biostudies-literature
UnknownMeasurement of the differential cross section for top quark pair production in pp collisions at [Formula: see text].
Not available
S-EPMC4657759 | biostudies-literature
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