Introducing exome sequencing as part of the diagnostic algorithm for pediatric nephrology patients in Bulgaria-a single-center experience
2024 - karger.com
Introduction: In pediatric kidney patients, where clinical presentation is often not fully
developed and renal biopsy too risky or inconclusive, it may be difficult to establish the�…
developed and renal biopsy too risky or inconclusive, it may be difficult to establish the�…
Introducing exome sequencing as part of the diagnostic algorithm for pediatric nephrology patients in Bulgaria-a single-center experience
O Beltcheva, K Kamenarova, G Zlatanova, K Mihova…�- Nephron - pubmed.ncbi.nlm.nih.gov
Introduction In pediatric kidney patients, where clinical presentation is often not fully
developed and renal biopsy too risky or inconclusive, it may be difficult to establish the�…
developed and renal biopsy too risky or inconclusive, it may be difficult to establish the�…
Introducing exome sequencing as part of the diagnostic algorithm for pediatric nephrology patients in Bulgaria-a single-center experience.
O Beltcheva, K Kamenarova, G Zlatanova, K Mihova…�- Nephron, 2024 - europepmc.org
Methods A cohort of 87 consecutive independent cases (83 children and 4 terminated
pregnancies) with renal disease were recruited. Exome sequencing with MiSeq or NovaSeq�…
pregnancies) with renal disease were recruited. Exome sequencing with MiSeq or NovaSeq�…