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UnknownGermline mutations in a G protein identify signaling cross-talk in T cells.
Not available
S-EPMC11811912 | biostudies-literature
UnknownExpectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Not available
S-EPMC11368951 | biostudies-literature
UnknownThe different clinical facets of SYN1-related neurodevelopmental disorders.
Not available
S-EPMC9773998 | biostudies-literature
UnknownPathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Not available
S-EPMC7331285 | biostudies-literature
UnknownA Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Not available
S-EPMC5986694 | biostudies-literature
UnknownSystematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies.
Not available
S-EPMC12424890 | biostudies-literature
UnknownEvaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Not available
S-EPMC7058829 | biostudies-literature
UnknownDe Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Not available
S-EPMC7332645 | biostudies-literature
UnknownThe neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Not available
S-EPMC10133310 | biostudies-literature
UnknownDrosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Not available
S-EPMC8983390 | biostudies-literature
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