Disease: Costello syndrome
- <em>De novo</em> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
- <em>HRAS</em>-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia
- <em>HRAS</em>-Related Costello Syndrome
- "De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade
- A tale of 2 conversions: Dichotomous decision in the spectrum of Shone syndrome is still a dilemma
- A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome
- Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome
- Advantages and Pitfalls of the Use of Optical Coherence Tomography for Papilledema
- American Heart Association Cardiogenic Shock Registry: Design and Implementation
- Anticoagulation Patterns Among Community-Dwelling Older Adults With Atrial Fibrillation
- Apathy and Motivation: Biological Basis and Drug Treatment
- Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics
- Association of Digoxin Use With Transplant-Free Interstage Survival in Infants Palliated With a Stage 1 Hybrid Procedure
- Autism spectrum disorder profiles in RASopathies: A systematic review
- Calreticulin Regulates SARS-CoV-2 Spike Protein Turnover and Modulates SARS-CoV-2 Infectivity
- Cancer in Costello syndrome: a systematic review and meta-analysis
- Clinical outcomes among initial survivors of cryptogenic new-onset refractory status epilepsy (NORSE)
- Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case
- Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome
- Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients
- Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes
- Development of a Definition of Postacute Sequelae of SARS-CoV-2 Infection
- Diagnosis, treatment planning, and comprehensive restoration of a patient with Costello syndrome: rationale and application of indirect composite resin onlays
- Differences in outcomes between surgical pericardial window and pericardiocentesis in children with postpericardiotomy syndrome
- Disseminated Intravascular Coagulation
- Down syndrome is associated with altered frequency and functioning of tracheal multiciliated cells, and response to influenza virus infection
- Dravet syndrome seizure frequency and clustering: Placebo-treated patients in clinical trials
- Dysplastic Mitral Valve in Costello Syndrome
- Early trajectories of virological and immunological biomarkers and clinical outcomes in patients admitted to hospital for COVID-19: an international, prospective cohort study
- Elranatamab in relapsed or refractory multiple myeloma: the MagnetisMM-1 phase 1 trial
- Factors Associated With Mortality and Adverse Outcomes After Truncus Arteriosus Repair
- Fatal leukodystrophy in Costello syndrome: a case report
- Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
- Germline susceptibility from broad genomic profiling of pediatric brain cancers
- HRAS-Related Costello Syndrome
- Human Genetics of Semilunar Valve and Aortic Arch Anomalies
- Human Genetics of Ventricular Septal Defect
- Insights for Healthcare Providers on Shared Decision-Making in Multiple Sclerosis: A Narrative Review
- Intravenous aviptadil and remdesivir for treatment of COVID-19-associated hypoxaemic respiratory failure in the USA (TESICO): a randomised, placebo-controlled trial
- MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept
- MEK Inhibition Improves Cardiomyopathy in Costello Syndrome
- Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): current understanding and challenges
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy
- Neuro-ophthalmic manifestations of autoimmune disorders: diagnostic pearls & pitfalls
- Outcomes of Gastrostomy and Tracheostomy in Infants Undergoing Truncus Arteriosus Repair: Database Study Using the Pediatric Health Information System
- Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series
- Placebo response in patients with Dravet syndrome: Post-hoc analysis of two clinical trials
- RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development
- RASopathies and cardiac manifestations
- RASopathies and spinal deformities for screening of scoliosis
- RASopathies for Radiologists
- Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome
- Recommendations from the 2023 international evidence-based guideline for the assessment and management of polycystic ovary syndrome
- Recommendations from the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome
- Recommendations from the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome†
- SARS-CoV-2 post-acute sequelae in previously hospitalised patients: systematic literature review and meta-analysis
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
- Small molecule inhibition for RASopathy-associated hypertrophic cardiomyopathy: Clinical application of a basic concept
- Somatic HRAS p.G12S mutation causes mosaic Costello syndrome with special cutaneous manifestations
- Statins for women with polycystic ovary syndrome not actively trying to conceive
- Surveying the International Prevalence and Nature of Eating, Drinking and Swallowing Difficulties in Adults Presenting with Fibromyalgia
- Syndromic forms of congenital hyperinsulinism
- The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
- The Role of Artificial Intelligence in Predicting Optic Neuritis Subtypes From Ocular Fundus Photographs
- The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome-Clinical Example and Brief Literature Review
- Torpedo maculopathy in Costello syndrome
- Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex