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UnknownInvestigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.
Not available
S-EPMC12564775 | biostudies-literature
UnknownIntegral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Not available
S-EPMC9690861 | biostudies-literature
UnknownMutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Not available
S-EPMC3738829 | biostudies-literature
UnknownBi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Not available
S-EPMC7273534 | biostudies-literature
UnknownUbiquitin activation is essential for schizont maturation in Plasmodium falciparum blood-stage development.
Not available
S-EPMC7332102 | biostudies-literature
UnknownRett syndrome: revised diagnostic criteria and nomenclature.
Not available
S-EPMC3058521 | biostudies-literature
UnknownLeishmania Genome Dynamics during Environmental Adaptation Reveal Strain-Specific Differences in Gene Copy Number Variation, Karyotype Instability, and Telomeric Amplification.
Not available
S-EPMC6222132 | biostudies-literature
UnknownTranscriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
Not available
S-EPMC8917697 | biostudies-literature
UnknownValidation and Update of the Lemann Index to Measure Cumulative Structural Bowel Damage in Crohn's Disease.
Not available
S-EPMC8609534 | biostudies-literature
UnknownA common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Not available
S-EPMC11648951 | biostudies-literature
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