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UnknownBLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Not available
S-EPMC7529931 | biostudies-literature
UnknownBiochemical and pharmacological characterization of human c-Met neutralizing monoclonal antibody CE-355621.
Not available
S-EPMC3502238 | biostudies-literature
UnknownImpaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis.
Not available
S-EPMC4699384 | biostudies-literature
UnknownKCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Not available
S-EPMC9254340 | biostudies-literature
UnknownClinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Not available
S-EPMC10757562 | biostudies-literature
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Not available
S-EPMC12165858 | 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.
Not available
S-EPMC12495801 | biostudies-literature
UnknownAnemia Acuity Effect on Transfusion Strategies in Acute Myocardial Infarction: A Secondary Analysis of the MINT Trial.
Not available
S-EPMC11530937 | biostudies-literature
UnknownEffect of Four Hemoglobin Transfusion Threshold Strategies in Patients With Acute Myocardial Infarction and Anemia : A Target Trial Emulation Using MINT Trial Data.
Not available
S-EPMC12701713 | biostudies-literature
UnknownRestrictive or Liberal Transfusion Strategy in Myocardial Infarction and Anemia.
Not available
S-EPMC10837004 | biostudies-literature
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