Lv11
80 积分 2025-08-11 加入
Severe congenital neutropenia and the unfolded protein response
3小时前
已完结
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
8天前
已完结
GREGoR: accelerating genomics for rare diseases
8天前
已完结
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature
25天前
已完结
Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes
1个月前
已完结
Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis
2个月前
已关闭
Predicting expression-altering promoter mutations with deep learning
2个月前
已完结
Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus
2个月前
已关闭
THE SYNAPTIC VESICLE CYCLE
2个月前
已完结
[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review]
3个月前
已完结
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