Lv1
50 积分 2023-01-28 加入
Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation
16小时前
待确认
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
2天前
已完结
Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis
3天前
已完结
Multiplexed assays of variant effect for clinical variant interpretation
3天前
已完结
Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing
6天前
已完结
High Throughput Proteomics Using the SomaLogic Platform
8天前
已完结
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
8天前
已完结
Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis
14天前
已完结
Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation
14天前
已完结
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
14天前
已完结
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