Lv35
380 积分 2025-03-17 加入
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
3天前
已完结
Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity
6天前
已完结
PRPS1-associated retinopathy: a diagnostic odyssey
16天前
已完结
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris
16天前
已完结
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
22天前
已完结
A Rare Case of Synchronous Fumarate Hydratase-Deficient Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma With Fumarate Hydratase and von Hippel-Lindau Gene Mutations: A Clinicopathologic and Molecular Study
30天前
已完结
Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma
30天前
已完结
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
1个月前
已完结
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
1个月前
已完结
Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects
1个月前
已完结
皖公网安备34019202002308
