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UnknownInternational Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic.
Not available
S-EPMC9311284 | 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
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | biostudies-literature
UnknownA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Not available
S-EPMC6295275 | biostudies-literature
UnknownDe novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Not available
S-EPMC11221546 | biostudies-literature
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
UnknownDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Not available
S-EPMC12358889 | 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
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