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UnknownCIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
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S-EPMC9305285 | biostudies-literature
UnknownComplete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Not available
S-EPMC7029237 | biostudies-literature
UnknownA novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Not available
S-EPMC7480926 | biostudies-literature
UnknownDrug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
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S-EPMC8862423 | biostudies-literature
UnknownA genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
Not available
S-EPMC4021749 | biostudies-literature
UnknownA deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Not available
S-EPMC6952318 | biostudies-literature
UnknownShaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Not available
S-EPMC11718132 | biostudies-literature
UnknownBiomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.
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S-EPMC6985062 | biostudies-literature
UnknownSphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Not available
S-EPMC10178845 | biostudies-literature
UnknownHeterologous mRNA/MVA delivering trimeric-RBD as effective vaccination regimen against SARS-CoV-2: COVARNA Consortium.
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S-EPMC11313003 | biostudies-literature
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