Lv22
150 积分 2021-08-28 加入
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families
1天前
待确认
ATP9A knockdown leads to neurite fracture and retraction
18天前
已完结
Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene
18天前
已完结
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations
19天前
已完结
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA
30天前
已完结
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations
1个月前
已完结
High-throughput mass spectrometry maps the sepsis plasma proteome and differences in patient response
1个月前
已完结
Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy
4个月前
已完结
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