• A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia
• A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
• Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature
• AIDS-defining events among people living with HIV who have been under continuous antiretroviral therapy for more than one year, a German cohort study 1999-2018
• Alice in Wonderland Syndrome (AIWS): prevalence and characteristics in adults with migraine
• Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
• Association of known SARS-CoV-2 serostatus and adherence to personal protection measures and the impact of personal protective measures on seropositivity in a population-based cross-sectional study (MuSPAD) in Germany
• Author Correction: Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification
• Behavioural and physiological indicators of anxiety reflect shared and distinct profiles across individuals with neurogenetic syndromes
• Bilateral Diaphragmatic Agenesis in Cornelia de Lange Syndrome
• BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL
• BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation
• Chromatinopathies: insight in clinical aspects and underlying epigenetic changes
• Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy
• Coats' Disease in a Patient With Cornelia de Lange Syndrome: Management With Laser and Bevacizumab
• Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases
• Continuous enzyme activity assay for high-throughput classification of histone deacetylase 8 inhibitors
• Cornelia de Lange Spectrum
• Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <em>RAD21</em> Detected through Very-High-Resolution Chromosomal Microarray Analysis
• Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
• Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast
• Cornelia de Lange Syndrome Presenting as Hydrops Fetalis due to Intestinal Atresia
• Correction of a deleterious TBX5 mutation in an induced pluripotent stem cell line (DHMi004-A-1) using a completely plasmid-free CRISPR/Cas 9 approach
• Critical care beyond organ support: the importance of geriatric rehabilitation
• CTCF/cohesin organize the ground state of chromatin-nuclear speckle association
• Disappearance of Hepatocellular Adenoma in a Patient with Cornelia de Lange Syndrome after Treatment with Transcatheter Arterial Embolization
• Distinguishing the impact of distinct obstructive sleep apnea syndrome (OSAS) and obesity related factors on human monocyte subsets
• DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
• Double somatic mosaicism in Cornelia de Lange syndrome
• Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a <em>SMC1A</em> gene mutation
• Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation
• Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
• Efficacy of supervised immersive virtual reality-based training for the treatment of chronic fatigue in post-COVID syndrome: study protocol for a double-blind randomized controlled trial (IFATICO Trial)
• Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
• Fdo1, Fkh1, Fkh2 and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae
• Gastrulation-stage gene expression in <em>Nipbl</em>^+/- mouse embryos foreshadows the development of syndromic birth defects
• Gastrulation-stage gene expression in <em>Nipbl</em>^+/- mouse embryos foreshadows the development of syndromic birth defects
• Genetic analysis of a fetus with Cornelia de Lange syndrome due to variant of SMC3 gene
• Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients
• Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci
• Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
• Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
• GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
• HDAC8 as an emerging target in drug discovery with special emphasis on medicinal chemistry
• Heterozygous loss-of-function <em>SMC3</em> variants are associated with variable and incompletely penetrant growth and developmental features
• Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
• High PEEP/low FiO₂ ventilation is associated with lower mortality in COVID-19
• Human Genetics of Ventricular Septal Defect
• Hyalocytes-guardians of the vitreoretinal interface
• Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome
• Identification of SARS-CoV-2 Mpro inhibitors through deep reinforcement learning for de novo drug design and computational chemistry approaches
• Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome
• Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
• Jervell and Lange-Nielsen Syndrome
• Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series
• Lenvatinib plus pembrolizumab versus lenvatinib plus placebo for advanced hepatocellular carcinoma (LEAP-002): a randomised, double-blind, phase 3 trial
• Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
• Longitudinal positron emission tomography and postmortem analysis reveals widespread neuroinflammation in SARS-CoV-2 infected rhesus macaques
• Lynch syndrome
• Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
• Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports
• Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome
• Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome
• Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening
• No impact of attenuation and scatter correction on the interpretation of dopamine transporter SPECT in patients with clinically uncertain parkinsonian syndrome
• Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
• Ornithine aspartate effects on bacterial composition and metabolic pathways in a rat model of steatotic liver disease
• Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
• Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification
• Quality of life, functioning and participation of adult patients with an amputation following complex regional pain syndrome I or brachial plexus injury: a scoping review protocol
• Relevance of mexiletine in the era of evolving antiarrhythmic therapy of ventricular arrhythmias
• Reversible cerebral Vasoconstriction syndrome intERnational CollaborativE (REVERCE) network: Study protocol and rationale of a multicentre research collaboration
• SARS-CoV-2 sero-immunity and quality of life in children and adolescents in relation to infections and vaccinations: the IMMUNEBRIDGE KIDS cross-sectional study, 2022
• SMC1A epilepsy syndrome: clinical data from a large international cohort
• SMC3 contributes to heart development by regulating super-enhancer associated genes
• Sneddon Syndrome
• STAG2: Computational Analysis of Missense Variants Involved in Disease
• Structural maintenance of chromosomes and associated genetic disorders
• Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
• Summer rain and wet soil rather than management affect the distribution of a toxic plant in production grasslands
• Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry
• Three-dimensional sonographic images of fetal hirsutism: prenatal characteristic features in cornelia de lange syndrome
• Tilt table testing, methodology and practical insights for the clinic
• Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza
• Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: Fragile X and Cornelia de Lange syndromes