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UnknownGenomic insights into the secondary aquatic transition of penguins.
Not available
S-EPMC9296559 | biostudies-literature
UnknownHigh-coverage genomes to elucidate the evolution of penguins.
Not available
S-EPMC6904868 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Not available
S-EPMC10506156 | biostudies-literature
UnknownA concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Not available
S-EPMC10506157 | biostudies-literature
UnknownLoss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989 | biostudies-literature
UnknownDe novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Not available
S-EPMC11533975 | biostudies-literature
UnknownA novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Not available
S-EPMC9426662 | biostudies-literature
UnknownIdentification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.
Not available
S-EPMC3709460 | biostudies-literature
UnknownOverall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.
Not available
S-EPMC10207856 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
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