EDITORIAL
Published on 20 Nov 2024
Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine
doi 10.3389/fgene.2024.1522931
- 244 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Diagnosis and Identification of Novel Disorders and Ultra-Rare Disorders in Science and Clinical Routine
Diagnosis and Identification of Novel Disorders and Ultra-Rare Disorders in Science and Clinical Routine
1,495
Total downloads
7,467
Total views and downloads
Submit your idea
You will be redirected to our submission process.
Articles
ORIGINAL RESEARCH
Published on 17 Sep 2024
Accelerating rare disease detection: an experience of multidisciplinary team model in undiagnosed diseases program in a children’s hospital
doi 10.3389/fpubh.2024.1373649
- 441 views
ORIGINAL RESEARCH
Published on 15 Mar 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
doi 10.3389/fgene.2024.1347474
- 3,064 views
CASE REPORT
Published on 08 Jan 2024
Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction
doi 10.3389/fgene.2023.1292085
- 897 views
- 1 citation
ORIGINAL RESEARCH
Published on 08 Jan 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
doi 10.3389/fgene.2023.1304520
- 1,220 views
- 1 citation
Published in
Frontiers in Genetics
- Human and Medical Genomics
Impact
- 7,467Topic views
- 5,325Article views
- 1,495Article downloads