NJ
Neil Jacob
Medical Genetics / Medical Biochemical Genetics
Credentials: ·
History
- 2021–2023
Medical Genetics and Genomics
- 2017–2021
Medical School
Research
Molecular Genetics and Metabolism · 2025 · 4 citations
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
JIMD Reports · 2026 · 3 citations
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report
Case report · Molecular Genetics and Metabolism · 2025 · First of 8 authors · 2 citations
4 papers
2 papers
- CD
2 papers
2 papers · 2 as a resident
2 papers
2 papers · 2 as a fellow
1 paper · 1 as a resident
1 paper
