Lv3
256 积分 2021-08-28 加入
Phenotypic complexities of rare heterozygous neurexin-1 deletions
17小时前
已完结
AAVLINK: A potent DNA-recombination method for large cargo delivery in gene therapy
17小时前
已完结
The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment
17小时前
已完结
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
12天前
已完结
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families
1个月前
已完结
ATP9A knockdown leads to neurite fracture and retraction
1个月前
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
1个月前
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
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA
2个月前
已完结
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