206 results on '"Roberts, Amy E."'
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2. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
3. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
4. Abstract 17273: Phenotypic Clustering of Patients With Heterotaxy Syndrome Predicts Outcomes of Mortality and Transplantation
5. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
6. De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease
7. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
8. Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types
9. Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management
10. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
11. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3
12. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
13. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
14. Abstract 15551: Pulmonary Hypertension in Patients With Noonan Syndrome Undergoing Cardiac Catheterization
15. The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease.
16. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
17. Association of genetic and sulcal traits with executive function in congenital heart disease
18. Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication
19. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
20. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
21. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
22. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
23. Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents
24. Association of genetic and sulcal traits with executive function in congenital heart disease.
25. Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication.
26. Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines
27. Perspectives of Rare Disease Experts on Newborn Genome Sequencing
28. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
29. The Genetics of Neurodevelopment in Congenital Heart Disease
30. Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease
31. Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young
32. morton_2023_oi_221502_1674145740.31597.pdf
33. 1-s2.0-S0828282X22009072-main.pdf
34. Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue
35. Inducible Pluripotent Stem Cell–Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome
36. How to effectively utilize genetic testing in the care of children with cardiomyopathies
37. Cardiomyopathies in Noonan syndrome and the other RASopathies
38. The Integral Formation of Catholic School Teachers
39. Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype
40. Development of the Cardiovascular System
41. Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study
42. Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay?
43. Noonan Syndrome and Other RAS/MAPK Pathway Syndromes
44. HUMAN GENETICS: De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
45. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
46. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings
47. Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot
48. Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis
49. NOONAN SYNDROME
50. In Memoriam
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