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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
UnknownSingle-Fraction vs Multifraction Stereotactic Ablative Body Radiotherapy for Pulmonary Oligometastases (SAFRON II): The Trans Tasman Radiation Oncology Group 13.01 Phase 2 Randomized Clinical Trial.
Not available
S-EPMC8404145 | biostudies-literature
UnknownAlteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Not available
S-EPMC3710753 | biostudies-literature
UnknownMono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Not available
S-EPMC11023922 | biostudies-literature
UnknownClinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Not available
S-EPMC5933354 | biostudies-literature
UnknownOral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Not available
S-EPMC5502308 | 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
UnknownDisease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Not available
S-EPMC7611932 | biostudies-literature
UnknownThrombotic and hemorrhagic complications of COVID-19 in adults hospitalized in high-income countries compared with those in adults hospitalized in low- and middle-income countries in an international registry.
Not available
S-EPMC10439444 | biostudies-literature
UnknownMapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Not available
S-EPMC11904026 | biostudies-literature
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