Disease: Noonan syndrome 3
- <em>De novo</em> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
- <em>PTPN11</em> and <em>FLNA</em> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features
- A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?
- A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?
- A Novel Homozygous Loss-of-Function Variant in <em>SPRED2</em> Causes Autosomal Recessive Noonan-like Syndrome
- A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
- A Systematic Compilation of Human SH3 Domains: A Versatile Superfamily in Cellular Signaling
- Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome-A Case Report
- Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia
- Bioluminescence Resonance Energy Transfer (BRET)-based Assay for Measuring Interactions of CRAF with 14-3-3 Proteins in Live Cells
- Case report: A <em>de novo</em> RASopathy-causing <em>SHOC2</em> variant in a Chinese girl with noonan syndrome-like with loose anagen hair
- Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair
- Case report: Identification and clinical phenotypic analysis of novel mutation of the <em>PPP1CB</em> gene in NSLH2 syndrome
- Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome
- Case report: Noonan syndrome with protein-losing enteropathy
- Clinical response to belumosudil in bronchiolitis obliterans syndrome: a combined analysis from 2 prospective trials
- Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
- Clinical Variability in a Noonan Syndrome Family with a Homozygous <em>PTPN11</em> Gene Variant in Two Individuals
- Clinical Variability in a Noonan Syndrome Family with a Homozygous PTPN11 Gene Variant in Two Individuals
- Co-Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management
- Cognitive and psychiatric symptom trajectories 2-3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK
- Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants
- Complex congenital heart disease : about a case of Noonan syndrome
- Corrigendum to "Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome"
- Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant
- Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
- Differentiating primary sarcomeric hypertrophic cardiomyopathy from Noonan syndrome: can the electrocardiogram be of use?
- Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia
- Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation
- Effect of Growth Hormone Therapy on Pubertal Timing: Systematic Review and Meta-Analysis
- Effectiveness of zebrafish models in understanding human diseases-A review of models
- Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome
- Endocrine system involvement in patients with RASopathies: A case series
- Epilepsy in a cohort of children with Noonan syndrome and related disorders
- Erratum: Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review: Erratum
- Evaluating Procedural Performance: A Composite Outcome for Aortic and Pulmonary Valvuloplasty in Congenital Cardiac Catheterization
- Fetal Hydrothorax Treated with Pleuro-Amniotic Shunting: Fetal and Maternal Complications and Long-Term Outcomes
- From Stem to Sternum: The Role of Shp2 in the Skeleton
- Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype
- Functional Classification and Interaction Selectivity Landscape of the Human SH3 Domain Superfamily
- Genetic examination for fetuses with increased nuchal translucency by exome sequencing
- Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
- Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer
- Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
- Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality
- Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature
- Gonadal function in Noonan syndrome
- Heat illness presentations to emergency departments in Western Sydney: surveillance for environmental, personal and behavioural risk factors
- High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
- Impaired communication ability in SOX11 syndrome
- Intrauterine Thoracoamniotic Shunting of Fetal Hydrothorax with the Somatex Intrauterine Shunt: Intrauterine Course and Postnatal Outcome
- Is There a Role for Alcohol Septal Ablation in Young Patients with Medically Refractory Hypertrophic Obstructive Cardiomyopathy?
- Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a <em>Sos1</em> mutation and lack of lymphatic embryonic phenotypes for a homozygous <em>Cx47</em> mutation in mice
- Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease
- Left ventricular posterior wall hypertrophy leads to poor prognosis of hypertrophic obstructive cardiomyopathy in children - a cohort study
- Long-term outcomes of surgery for obstructive hypertrophic cardiomyopathy in a pediatric cohort
- Management of failed Chiari decompression and intrasyringeal hemorrhage in Noonan syndrome: illustrative cases
- Methemoglobinemia Induced by Prilocaine in a Child With Noonan Syndrome
- Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family
- MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- Narrative review of pediatric heart failure in the age of precision medicine
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy
- Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines
- Near adult height and BMI changes in growth hormone treated short children with Noonan syndrome: the Belgian experience
- Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up
- Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study
- Noonan syndrome-like phenotype associated with an ERF frameshift variant
- Noonan syndrome: Neuroimaging findings and morphometric analysis of the cranium base and posterior fossa in children
- Noonan syndrome: rhGH treatment and PTPN11 mutation
- Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities
- Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities
- Novel therapeutic perspectives in Noonan syndrome and RASopathies
- Observation and Management of Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Associated Myeloproliferative Disorder: A Real-World Experience
- Orchiopexy
- Pectus Arcuatum: A Pectus Unlike Any Other
- Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies
- Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature
- Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity
- RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology
- Randomized Trial of BCG Vaccine to Protect against Covid-19 in Health Care Workers
- RASopathies and spinal deformities for screening of scoliosis
- Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence
- Risk factors for SARS-CoV-2 infection in healthcare workers following an identified nosocomial COVID-19 exposure during waves 1-3 of the pandemic in Ireland
- Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
- SEVERE INFANTILE ASTHMA TREATED WITH LONG-ACTING MUSCARINIC ANTAGONIST: A CASE SERIES
- Spectrum of Mutations in <em>PTPN11</em> in Russian Cohort
- Structural and functional analyses of a germline KRAS T50I mutation provide insights into Raf activation
- Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
- Surgical Management of Pterygium Colli with Significant Skin Laxity: A Case Report
- Systematic literature review of lymphatic imaging-guided procedural management of Noonan syndrome
- The Cell-Specific Role of SHP2 in Regulating Bone Homeostasis and Regeneration Niches
- The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
- The Microenvironment of the Pathogenesis of Cardiac Hypertrophy
- The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
- The Multifaceted Syndromic Primary Immunodeficiencies in Children
- The Raf/LIN-45 C-terminal distal tail segment negatively regulates signaling in <em>Caenorhabditis elegans</em>
- Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome
- Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome
- Unexpected cause of pancytopenia in a teenager with Noonan syndrome
