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Spanish registry of pediatric pulmonary hypertension
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Additional file 3 of A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application
Additional file 3: Table S3. Information of the sequencing reads of the 3 urine samples generated by Pime-Seq.
Figshare2024-08-15 更新80
Additional file 3 of Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India
Additional file 3: Supplementary Table S3. Overview of exclusion and prioritization of variants to obtain pathogenic variant from clinical exome data.
DataCite Commons2021-05-07 更新40
Proportion of Cases in Which Physician Ordered Genetic Testing by Round.
Proportion of Cases in Which Physician Ordered Genetic Testing by Round.
NIAID Data Ecosystem40
Additional file 1 of Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India
Additional file 1: Supplementary Table S1. Primer sequences used for the mutation validation by Sanger sequencing.
DataCite Commons2021-05-07 更新50
Ten clinically relevant genes on the B.O.P. panel assessed for analytical validity.
Ten clinically relevant genes on the B.O.P. panel assessed for analytical validity.
NIAID Data Ecosystem40
