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UnknownPRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Not available
S-EPMC11149102 | biostudies-literature
UnknownLoss of Adaptive Myelination Contributes to Methotrexate Chemotherapy-Related Cognitive Impairment.
Not available
S-EPMC6697075 | biostudies-literature
UnknownRecurrence of nephrotic syndrome following kidney transplantation is associated with initial native kidney biopsy findings.
Not available
S-EPMC6129203 | biostudies-literature
UnknownSubtypes of medulloblastoma have distinct developmental origins.
Not available
S-EPMC3059767 | biostudies-literature
UnknownLiberal or restrictive transfusion in high-risk patients after hip surgery.
Not available
S-EPMC3268062 | biostudies-literature
UnknownShort-term progression of interstitial lung disease in systemic sclerosis predicts long-term survival in two independent clinical trial cohorts.
Not available
S-EPMC6311344 | biostudies-literature
Unknown100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Not available
S-EPMC7613219 | biostudies-literature
UnknownGenetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Not available
S-EPMC4522594 | biostudies-literature
UnknownTherapeutic Anticoagulation with Heparin in Noncritically Ill Patients with Covid-19.
Not available
S-EPMC8362594 | biostudies-literature
UnknownWhole-genome sequencing of patients with rare diseases in a national health system.
Not available
S-EPMC7610553 | biostudies-literature
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