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UnknownDisease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
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S-EPMC6018712 | biostudies-literature
UnknownProteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
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S-EPMC7338805 | biostudies-literature
UnknownRare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
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S-EPMC6731366 | biostudies-literature
UnknownGenome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
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S-EPMC12495801 | biostudies-literature
UnknownRepurposed Antiviral Drugs for Covid-19 - Interim WHO Solidarity Trial Results.
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S-EPMC7727327 | biostudies-literature
UnknownGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
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S-EPMC4835977 | biostudies-literature
UnknownGeoeconomic variations in epidemiology, ventilation management, and outcomes in invasively ventilated intensive care unit patients without acute respiratory distress syndrome: a pooled analysis of four observational studies.
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S-EPMC8766316 | biostudies-literature
UnknownMapping the human genetic architecture of COVID-19.
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S-EPMC8674144 | biostudies-literature
UnknownA second update on mapping the human genetic architecture of COVID-19.
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S-EPMC10482689 | biostudies-literature
UnknownTherapeutic Anticoagulation with Heparin in Critically Ill Patients with Covid-19.
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S-EPMC8362592 | biostudies-literature
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