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
- 369 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
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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
- 678 views
- 1 citation
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
- 3,422 views
- 1 citation
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
- 1,054 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
- 1,582 views
- 4 citations
