Lv61
1910 积分 2025-05-19 加入
Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy
7天前
已完结
Whose Role Is It, Anyway? Ensuring Correct Genomic Variant Nomenclature in Published Literature
7天前
已完结
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia
7天前
已完结
Blood Phosphorylated Tau for the Diagnosis of Alzheimer Disease
7天前
已完结
Phenotypic Characterization of DFNB16-associated Hearing Loss
30天前
已完结
Prevalence and spectrum of STRC variants in 1015 sensorineural hearing loss patients: insights from the Chinese population
30天前
已完结
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients
30天前
已完结
Glucolipotoxicity Alters Insulin Secretion via Epigenetic Changes in Human Islets
1个月前
已完结
FIC Domain Protein Adenylyltransferase (FICD)‐Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus
1个月前
已完结
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy
1个月前
已完结
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