Lv4
500 积分 2023-04-08 加入
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
10天前
已完结
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
17天前
已完结
Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly
22天前
已完结
CRISPR-Based Regulation for High-Throughput Screening
3个月前
已完结
Dual-camera off-axis holographic particle tracking velocimetry: Development and application to air-blast swirl spray measurement
4个月前
已完结
Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type
4个月前
已完结
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
8个月前
已完结
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