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UnknownPrevalent ALMS1 Pathogenic Variants in Spanish Alstrom Patients.
Not available
S-EPMC7920446 | biostudies-literature
UnknownGenotypic and Phenotypic Characteristics of Staphylococcus aureus Prosthetic Joint Infections: Insight on the Pathogenesis and Prognosis of a Multicenter Prospective Cohort.
Not available
S-EPMC7519778 | biostudies-literature
UnknownPRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Not available
S-EPMC10931554 | biostudies-literature
UnknownPrioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
Not available
S-EPMC9864172 | biostudies-literature
UnknownPrioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Not available
S-EPMC7902814 | biostudies-literature
UnknownNGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Not available
S-EPMC8553673 | biostudies-literature
UnknownAggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Not available
S-EPMC9368980 | biostudies-literature
UnknownEstablishment and Phytochemical Analysis of a Callus Culture from Ageratina pichinchensis (Asteraceae) and Its Anti-Inflammatory Activity.
Not available
S-EPMC6099804 | biostudies-literature
UnknownAn evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Not available
S-EPMC8795168 | biostudies-literature
Genomics58747723-e185-4df8-aac6-8e65d2b0f0d3 - samples
In the context of research, this dataset contains 423 IRD samples; 411 of them analyzed with Clinical Exome Sequencing solutions, and 12 with Whole Exome Sequencing.
EGAD00001007022 | EGA
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