Sort   by:  
 Page size 
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-EPMC8206389 | biostudies-literature
UnknownEvaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Not available
S-EPMC7058829 | biostudies-literature
UnknownLessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Not available
S-EPMC10801341 | biostudies-literature
UnknownARID1B-related disorder in 87 adults: Natural history and self-sustainability.
Not available
S-EPMC11613905 | biostudies-literature
UnknownEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Not available
S-EPMC10853222 | 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
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Not available
S-EPMC12165858 | biostudies-literature
Unknown<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.
Not available
S-EPMC11910791 | biostudies-literature
Sort   by:  
 Page size