Lv12
40 积分 2023-07-04 加入
Hypophosphatasia as a rare cause of neonatal seizures
4小时前
已完结
Hypophosphatasia as a rare cause of neonatal seizures
21小时前
已完结
TRIT1 deficiency: Two novel patients with four novel variants
1个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
5个月前
已完结
Whole Exome Sequencing in Fetal Cardiac Rhabdomyoma Detected by Ultrasonography: An Analysis of 12 Cases
5个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
5个月前
已完结
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling
5个月前
已完结
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
5个月前
已完结
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord
5个月前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
6个月前
已完结
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