Lv4
730 积分 2025-05-27 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
16天前
已完结
AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification
21天前
已完结
A Variable Clinical Presentation of Hemoglobin City of Hope
28天前
已完结
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
1个月前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
1个月前
已完结
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype
1个月前
已完结
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review
1个月前
已完结
Clinical Implementation of RHDNIPT in a Tertiary Obstetric Centre in Western Australia
2个月前
已完结
High-throughput non-invasive prenatal testing for fetal rhesus D status in RhD-negative women not known to be sensitised to the RhD antigen: a systematic review and economic evaluation
2个月前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
3个月前
已完结
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