Lv2
158 积分 2024-07-18 加入
Phenotype characterisation ofTBX4mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
2天前
待确认
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
4天前
已完结
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
14天前
已完结
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
16天前
已完结
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
16天前
已完结
Incorporation of Clinical and Molecular Variant Properties Improves the Performance of in silico Pathogenicity Prediction Tools
17天前
已关闭
Patterns of X-linked inheritance: A new approach for the genome era
18天前
已完结
A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review
25天前
已完结
Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene‐Interfered Genomic Diagnosis
25天前
已完结
The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death
25天前
已关闭
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