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UnknownHeart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.
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S-EPMC10299704 | biostudies-literature
UnknownA Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Not available
S-EPMC9408140 | biostudies-literature
UnknownFunctional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Not available
S-EPMC10531903 | biostudies-literature
UnknownFluorescent whole-cell hybridization with 16S rRNA-targeted oligonucleotide probes to identify Brucella spp. by flow cytometry.
Not available
S-EPMC87026 | biostudies-literature
UnknownEvaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Not available
S-EPMC7038094 | biostudies-literature
UnknownTechnical Workflow Development for Integrating Drone Surveys and Entomological Sampling to Characterise Aquatic Larval Habitats of Anopheles funestus in Agricultural Landscapes in Cote d'Ivoire.
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S-EPMC8575637 | biostudies-literature
UnknownOverweight Mice Show Coordinated Homeostatic and Hedonic Transcriptional Response across Brain.
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S-EPMC6327943 | biostudies-literature
UnknownTargeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Not available
S-EPMC4538209 | biostudies-literature
UnknownNovel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Not available
S-EPMC6075543 | biostudies-literature
UnknownPostzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Not available
S-EPMC12216401 | biostudies-literature
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