Disease: Roberts Syndrome
- "Oncocytoid Renal Cell Carcinomas After Neuroblastoma" Represent TSC-mutated Eosinophilic Solid and Cystic Renal Cell Carcinomas: Association With Prior Childhood Malignancy and Multifocality With Therapeutic Implications
- A Case of Bing-Neel Syndrome Presenting Like Giant Cell Arteritis
- A machine learning-based phenotype for long COVID in children: An EHR-based study from the RECOVER program
- Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload?
- Acute toxic shock syndrome associated with intra-operative debridement and instrumentation removal for chronic osteomyelitis: A report of two cases
- Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome
- Administering Parenteral Nutrition in the Neonatal Intensive Care Unit: Logistics, Existing Challenges, and a Few Conundrums
- Advancing the science of management of arrhythmic disease in children and adult congenital heart disease patients within the last 25 years
- Alcohol relapse prevention health care after alcohol withdrawal in New South Wales prisons, Australia: A patient file review
- Amyotrophic lateral sclerosis
- Analysis of acute COVID-19 including chronic morbidity: protocol for the deep phenotyping National Pandemic Cohort Network in Germany (NAPKON-HAP)
- Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions
- Apical and mechanistic effects of 6PPD-quinone on different life-stages of the fathead minnow (Pimephales promelas)
- Associations Between Maternal Sociodemographics and Hospital Mortality in Newborns With Prenatally Diagnosed Hypoplastic Left Heart Syndrome
- Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening
- Baseline rotational thromboelastometry (ROTEM) values in a healthy, diverse obstetric population and parameter changes by pregnancy-induced comorbidities
- BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures
- Botulinum toxin in the management of parkinsonian disorders
- Calcium Release Deficiency Syndrome: A New Inherited Arrhythmia Syndrome
- Cardiopulmonary Profiling of Athletes with Post-Exertional Malaise after COVID-19 Infection-A Single-Center Experience
- Case report: The evolving phenotype of <em>ESCO2</em> spectrum disorder in a 15-year-old Malaysian child
- Ceragenins exhibit antiviral activity against SARS-CoV-2 by increasing the expression and release of type I interferons upon activation of the host's immune response
- Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease
- Cleavage of cFLIP restrains cell death during viral infection and tissue injury and favors tissue repair
- Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
- Comparison of penetrating and endothelial keratoplasty in patients with iridocorneal endothelial syndrome: A registry study
- Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations
- Contemporary Trends in Clinical Characteristics, Therapeutic Strategies and Outcomes in Patients Aged 80 Years and Older Presenting with non-ST Elevation Myocardial Infarctions in the United States
- Cyclophosphamide-induced liver injury during treatment of interstitial lung disease in juvenile dermatomyositis
- Cytokine Kinetics during Progression of COVID-19 in Rwanda Patients: Could IL-9/IFNγ Ratio Predict Disease Severity?
- Diabetes management in older adults who fall: a study amongst older adults presenting to the emergency department
- Diagnosis and Management of Aortic Dissection in a Pediatric Patient With Turner Syndrome: A Simulation
- Disability assessment among persons with epilepsy in Mahenge, an onchocerciasis-endemic area in Tanzania: A cross-sectional study
- Down syndrome and leukemia: from basic mechanisms to clinical advances
- Drug-induced Sweet's syndrome: a case/non-case study in the French pharmacovigilance database
- Early Administration of the Phytocannabinoid Cannabidivarin Prevents the Neurobehavioral Abnormalities Associated with the <em>Fmr1</em>-KO Mouse Model of Fragile X Syndrome
- Early nasal intermittent positive pressure ventilation (NIPPV) versus early nasal continuous positive airway pressure (NCPAP) for preterm infants
- Effect of onchocerciasis elimination measures on the incidence of epilepsy in Maridi, South Sudan: a 3-year longitudinal, prospective, population-based study
- Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Emerging Targeted Therapies for Inherited Cardiomyopathies and Arrhythmias
- Endothelial FoxM1 reactivates aging-impaired endothelial regeneration for vascular repair and resolution of inflammatory lung injury
- Environmental and occupational risk factors for myelodysplastic syndrome
- Epidemiological and clinical evaluation of patients with a cleft in lower saxony Germany: a mono-center analysis
- Examination on the Occurrence of Coinfections in Diagnostic Transmittals in Cases of Stillbirth, Mummification, Embryonic Death, and Infertility (SMEDI) Syndrome in Germany
- Fir(e)ing the Rhythm: Inflammatory Cytokines and Cardiac Arrhythmias
- From diabetes to sleep apnea: what obesity complications should we look for?
- Health related quality of life, remission and low lupus disease activity state in patients with systemic lupus erythematosus
- High Prevalence of Frailty in Patients with Adrenal Adenomas and Adrenocortical Hormone Excess - a cross-sectional multi-centre study with prospective enrolment
- Identification of Low- versus High-Risk Acute Coronary Syndrome for a Selective ECG Monitoring Strategy
- Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study
- JAK Inhibition in Juvenile Idiopathic Arthritis (JIA): Better Understanding of a Promising Therapy for Refractory Cases
- Juvenile myelomonocytic leukemia and pediatric myelodysplastic syndromes
- Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations
- Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines
- Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata
- Maternal Sex Chromosome Aneuploidy Identified through Noninvasive Prenatal Screening: Clinical Profile and Patient Experience
- Meconium ileus and pancreatic sufficiency with D1152H mutation: A case report and review of the literature
- Milestones: Dr. Robert C. Gallo and the Discovery of HIV-1
- Modeling Alzheimer's disease related phenotypes in the Ts65Dn mouse: impact of age on Aβ, Tau, pTau, NfL, and behavior
- Multimodal imaging of an acute presentation of ocular histoplasmosis syndrome in an immunocompetent patient
- Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
- Neural, physiological and behavioural correlates of empathy for pain in Tourette syndrome
- Neurogenic Defects Occur in <em>LRIG2</em>-Associated Urinary Bladder Disease
- Obstructive sleep apnea in children with Down syndrome: contribution of upper airway and chemosensitivity
- Optimization of HIV testing services in Germany using HIV indicator diseases: study protocol of the HeLP study
- Outcomes of pediatric tracheostomy after surgery for congenital heart disease: A 20-year experience
- P22-A142 Validation of an improved closed system for dispensing serum eye drops
- Persistent Increase in Serum Ferritin Levels despite Converting to Permanent Vascular Access in Pediatric Hemodialysis Patients: Pediatric Nephrology Research Consortium Study
- Platelets are a major player and represent a therapeutic opportunity in systemic lupus erythematosus
- Predicting Heterogeneity in Patient Response to Morphine Treatment for Neonatal Opioid Withdrawal Syndrome
- Prenatal Intravenous Magnesium at 30-34 Weeks' Gestation and Neurodevelopmental Outcomes in Offspring: The MAGENTA Randomized Clinical Trial
- Prevalence and characteristics of post COVID-19 condition five months after SARS-COV-2 infection in inpatients and outpatients
- Prevalence of Symptoms ≤12 Months After Acute Illness, by COVID-19 Testing Status Among Adults - United States, December 2020-March 2023
- Prognostic Role of Metabolic Exercise Testing in Heart Failure
- Proposal of Model for Evaluation of Viral Kinetics of African/Asian/Brazilian-<em>Zika virus</em> Strains (Step Growth Curve) in Trophoblastic Cell Lines
- Quality of life in caregivers of a child with a developmental and epileptic encephalopathy
- Recent updates in the development of molecular assays for the rapid identification and susceptibility testing of MRSA
- Retrospective Evaluation of Urological Problems in Rare Childhood Syndromes
- Russell Viper Venom: A Journey from the Bedside to the Bench and Back to the Bedside
- RyR2 C-terminal Truncating Variants Identified in Patients with Arrhythmic Phenotypes Exert a Dominant Negative Effect through Formation of Wildtype-truncation Heteromers
- Safety, tolerability, and efficacy of adjunctive lacosamide in pediatric patients with epilepsy syndromes associated with generalized seizures: Phase 2, open-label exploratory trial
- Seroepidemiological and Molecular Survey for the Detection of SARS-CoV-2 Infection among Children in Iran, September 2020 to June 2021: 1-Year Cross-Sectional Study
- Species which may act as vectors or reservoirs of diseases covered by the Animal Health Law: Listed pathogens of crustaceans
- Spontaneous Dual Papillary Muscle Rupture in a Postpartum Patient with Ehlers-Danlos Syndrome
- Study protocol: A cross-sectional survey of clinicians to identify barriers to clinical practice guideline implementation in the assessment and treatment of persistent tic disorders
- The Arduous Path to Drug Approval for the Management of Prader-Willi Syndrome: A Historical Perspective and Call to Action
- The Burden of Congenital Heart Disease and Urogenital Lesions in a National Cohort of Hirschsprung Patients
- The Microenvironment of the Pathogenesis of Cardiac Hypertrophy
- The Modified Clinical Progression Scale for Pediatric Patients: Evaluation as a Severity Metric and Outcome Measure in Severe Acute Viral Respiratory Illness
- The small non-coding RNA B11 regulates multiple facets of Mycobacterium abscessus virulence
- The Use of an Inspiration-Synchronized Vibrating Mesh Nebulizer for Prolonged Inhalative Iloprost Administration in Mechanically Ventilated Patients-An In Vitro Model
- Ticagrelor inverse agonist activity at the P2Y<sub>12</sub> receptor is non-reversible versus its endogenous agonist ADP
- Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza
- Transthyretin amyloid cardiomyopathy
- Type, Timing, Frequency, and Durability of Outcome of Physical Therapy for Parkinson Disease: A Systematic Review and Meta-Analysis
- Unexplained Dyspnea: Hepatopulmonary Syndrome without Cirrhosis?
- Unique Changes in the Incidence of Acute Chest Syndrome in Children with Sickle-Cell Disease Unravel the Role of Respiratory Pathogens: A Time-Series Analysis
- Unique Roberts syndrome with bilateral congenital glaucoma: A case report
- VHL-deficiency leads to reductive stress in renal cells
- Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness