Disease: Supravalvular aortic stenosis
- A 3D scaling law for supravalvular aortic stenosis suited for stethoscopic auscultations
- A case report of Williams syndrome with main clinical manifestation of hypercalcemia and gastrointestinal bleeding as the main clinical manifestations, and with an accompanying literature review
- A Novel Mutation in the <em>ADAMTS10</em> Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart
- An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report
- Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations
- Anxiety, concerns and emotion regulation in individuals with Williams syndrome and Down syndrome during the COVID-19 outbreak: a global study
- Aortic Valve Replacement
- Blockade of Inflammatory Markers Attenuates Cardiac Remodeling and Fibrosis in Rats with Supravalvular Aortic Stenosis
- Buspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study
- Characterization of the Zebrafish <em>Elastin a</em> (<em>elna<sup>sa12235</sup></em>) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects
- Clinical features and genetic analysis of two children with Williams-Beuren syndrome
- Computed tomographic evaluation of congenital left ventricular outflow obstruction
- Concurrent predictors of mathematics achievement for 9-year-old children with Williams syndrome
- Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
- Coronary artery lesions are associated with adverse cardiac events in children undergoing supravalvular aortic stenosis repair
- Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome
- Development of emotion comprehension in children with autism spectrum disorder and Williams syndrome
- Diagnosis of membranous supravalvular aortic stenosis with severe aortic valve insufficiency
- Dissociable Cognitive Systems for Recognizing Places and Navigating through Them: Developmental and Neuropsychological Evidence
- Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome
- Dysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model
- Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland
- Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report
- Extensive characterization of a Williams syndrome murine model shows Gtf2ird1-mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior
- Fatal cardiac dysfunction in a child with Williams syndrome
- Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation
- Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review
- Frequency, Predictors, and Clinical Impact of Valvular and Perivalvular Thrombus After Transcatheter Aortic Valve Replacement
- Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
- Health-related quality of life of children with Williams syndrome and caregivers in China
- Intensive Care Unit Analgosedation After Cardiac Surgery in Children with Williams Syndrome : a Matched Case-Control Study
- Investigating Cardiac Arrhythmias among Patients With Williams Syndrome in the United States: An Analysis Using the 2016 to 2020 National Inpatient Sample
- Large saccular aneurysm of the ascending aorta in a 5-year-old patient
- Lethal Fungal Aortitis In Surgically Corrected Supravalvular Aortic Stenosis In A Child With Williams Syndrome
- Long-term Outcomes After Surgical Intervention for Congenital Supravalvar Aortic Stenosis in Children
- Long-term surgical outcomes of congenital supravalvular aortic stenosis: a systematic review, meta-analysis and microsimulation study
- Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes
- Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome
- Mean compression ratio of a self-expandable valve is associated with the need for pacemaker implantation after transcatheter aortic valve replacement
- Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia
- Myocardial proteome changes in aortic stenosis rats subjected to long-term aerobic exercise
- N -acetylcysteine for Trichotemnomania in an Adult Female With Williams Syndrome
- Neuronal deletion of Gtf2i results in developmental microglial alterations in a mouse model related to Williams syndrome
- Neuronal Gtf2i deletion alters mitochondrial and autophagic properties
- No transfer of arousal from other's eyes in Williams syndrome
- Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
- Ocular features in Williams-Beuren syndrome: a review of the literature
- Patch aortoplasty for supravalvular aortic stenosis in an adult patient: A case report
- Perceived Anxiety in Family Caregivers of Individuals with Autism Spectrum Disorder, Down Syndrome and Williams Syndrome during the Lockdown of the First COVID-19 Wave in Spain
- Pragmatic skills in people with Williams syndrome: the perception of families
- Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
- Presenilin-1 in smooth muscle cells facilitates hypermuscularization in elastin aortopathy
- Rare case of incomplete Shone syndrome in adult man with marfanoid morphotype
- Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report
- Supravalvar Aortic Stenosis
- Supravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management
- Supravalvular aortic stenosis: the long-term story of a mischievous disease
- Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome
- Upper partial sternal split for pediatric cardiac surgery
- Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature
- Williams-Beuren syndrome shapes the gut microbiota metaproteome
- Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech