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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy
21小时前
求助中
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years
21小时前
已完结
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
23小时前
已完结
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome
4个月前
已完结
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
6个月前
已完结
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct
8个月前
已完结
SVA Elements: A Hominid-specific Retroposon Family
9个月前
已完结
Silencing of purinergic receptor P2Y2 inhibited enteric neural crest cell proliferation, invasion and migration via suppressing ERK signaling pathway in Hirschsprung disease
11个月前
已完结
Transcript Profiling Using Long-Read Sequencing Technologies
11个月前
已完结
High-accuracy long-read amplicon sequences using unique molecular identifiers with Nanopore or PacBio sequencing
11个月前
已完结
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