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Efficient reinterpretation of rare disease cases using Exomiser.
Not available
S-EPMC11655964
|
biostudies-literature
Cite
Learning from the past: rare ε-Fe2O3 in the ancient black-glazed Jian (Tenmoku) wares.
Not available
S-EPMC4018809
|
biostudies-literature
Cite
Structural and spectroscopic studies of a rare non-oxido V(v) complex crystallized from aqueous solution.
Not available
S-EPMC5477013
|
biostudies-literature
Cite
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
Not available
S-EPMC12627670
|
biostudies-literature
Cite
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.
Not available
S-EPMC12083603
|
biostudies-literature
Cite
Marine mammal strandings and environmental changes: a 15-year study in the St. Lawrence ecosystem.
Not available
S-EPMC3609766
|
biostudies-literature
Cite
Scalable and Consolidated Microbial Platform for Rare Earth Element Leaching and Recovery from Waste Sources.
Not available
S-EPMC10785750
|
biostudies-literature
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A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.
Not available
S-EPMC8188402
|
biostudies-literature
Cite
Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles.
Not available
S-EPMC4930723
|
biostudies-literature
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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Not available
S-EPMC8661833
|
biostudies-literature
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