33 results on '"Geddes, Gabrielle C."'
Search Results
2. Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects
3. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
4. Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects
5. A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices
6. Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease
7. Surgical history and outcomes in trisomy 13 and 18: A thirty-year review
8. A multi-disciplinary, comprehensive approach to management of children with heterotaxy
9. Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated
10. OBGYN providers’ lack of knowledge and management of genetic risks due to advanced paternal age underscore the need for updated practice guidance
11. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
12. Abstract 16552: Chromosomal Microarray Abnormalities in More Than 1300 Patients With Congenital Heart Disease Provide Novel Clinical and Etiological Insights
13. Variants of significance: medical genetics and surgical outcomes in congenital heart disease
14. Cover
15. Neonatal Assessment of Infants with Heterotaxy
16. Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction
17. Language regression, hemichorea and focal subclinical seizures in a 6-year-old girl with GLUT-1 deficiency
18. Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease
19. A case of Coffin–Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant
20. Microcephalic Newborn with Forehead Nevus Flammeus, Bulging Eyes, and Clenched Fists
21. Genetic evaluation of patients with congenital heart disease
22. Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy
23. The spectrum of manifestations in desmoplakin gene ( DSP ) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab
24. Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease
25. Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome
26. Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome
27. Bacteremia in Patients with Heterotaxy: A Review and Implications for Management
28. BAG3 myofibrillar myopathy presenting with cardiomyopathy
29. Skip segment Hirschsprung disease and Waardenburg syndrome
30. FISH for 22q11.2 Deletion Not Cost-Effective for Infants with Congenital Heart Disease with Microarray
31. Physiological characterization of stolon regression in a colonial hydroid
32. Multicellular Redox Regulation in an Early‐Evolving Animal Treated with Glutathione
33. Redox signaling in colonial hydroids: many pathways for peroxide
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.