Sort   by:  
 Page size 
UnknownPathogenic REST variant causing Jones syndrome and a review of the literature.
Not available
S-EPMC10133349 | biostudies-literature
Unknown<i>RNU4-2</i> monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity.
Not available
S-EPMC12322396 | biostudies-literature
UnknownDevelopment of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Not available
S-EPMC6752300 | biostudies-literature
UnknownCongenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Not available
S-EPMC3269369 | biostudies-literature
UnknownBeyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
Not available
S-EPMC12048715 | biostudies-literature
UnknownMicrocephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Not available
S-EPMC3155199 | biostudies-literature
UnknownA genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.
Not available
S-EPMC1950931 | biostudies-literature
UnknownEvaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Not available
S-EPMC6688107 | biostudies-literature
UnknownExpanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Not available
S-EPMC10724518 | biostudies-literature
UnknownGenomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Not available
S-EPMC7536406 | biostudies-literature
Sort   by:  
 Page size