Search

Your search keyword '"Fraser, Jamie A."' showing total 304 results

Search Constraints

Start Over You searched for: Author "Fraser, Jamie A." Remove constraint Author: "Fraser, Jamie A."
304 results on '"Fraser, Jamie A."'

Search Results

1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

2. Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.

4. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

5. Systemic complications of Aicardi Goutières syndrome using real-world data

6. Evaluating SARS-CoV-2 Saliva and Dried Blood Spot Surveillance Strategies in a Congregate Population

7. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

8. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

9. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

11. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

12. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

18. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

21. Systemic Complications and Natural History of Aicardi Goutières Syndrome (P6-8.001)

22. Systemic Complications of Aicardi Goutières Syndrome Using Real World Data

23. Advance Care Planning for Children With Rare Diseases: A Pilot RCT.

24. Gut microbiome and antibiotic resistance effects during travelers’ diarrhea treatment and prevention

25. Palladium and copper mediated cross couplings using dialkylphosphites

28. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

45. Contributors

48. Developmental delay can precede neurologic regression in metachromatic leukodystrophy

50. 1884. Evaluating SARS-CoV-2 Surveillance Strategies at the United States Naval Academy: A Comparison of Saliva and Dried Blood Spot Serosurveillance Against Molecular-Confirmed Case Detection

Catalog

Books, media, physical & digital resources