Found: 3
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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 3, p. 152, doi. 10.3390/metabo14030152
- By:
- Publication type:
- Article
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006206
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- Publication type:
- Article