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UnknownRecurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
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S-EPMC12358058 | biostudies-literature
UnknownLethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
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S-EPMC9744956 | biostudies-literature
UnknownIntracellular Photophysics of an Osmium Complex bearing an Oligothiophene Extended Ligand.
Not available
S-EPMC7704931 | biostudies-literature
UnknownFunctional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
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S-EPMC6258334 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
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S-EPMC11698638 | biostudies-literature
UnknownP selectin promotes SARS-CoV-2 interactions with platelets and the endothelium.
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S-EPMC12618076 | biostudies-literature
Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | biostudies-literature
UnknownGenome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
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S-EPMC9000935 | biostudies-literature
UnknownCollective remembering and future forecasting during the COVID-19 pandemic: How the impact of COVID-19 affected the themes and phenomenology of global and national memories across 15 countries.
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S-EPMC9273704 | biostudies-literature
UnknownBaseline Features and Reasons for Nonparticipation in the Colonoscopy Versus Fecal Immunochemical Test in Reducing Mortality From Colorectal Cancer (CONFIRM) Study, a Colorectal Cancer Screening Trial.
Not available
S-EPMC10336619 | biostudies-literature
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