Lv11
100 积分 2024-10-20 加入
MEK Inhibition Improves Clinical eOutcome in Premature Infants With Multisystemic RASA1 Disease
1小时前
求助中
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
16天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
16天前
已完结
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome
21天前
已完结
Genetics and Gene Therapy of Anderson-Fabry Disease
30天前
已完结
Adjacent intervertebral disc preservation or not during hemivertebra resection in the treatment of congenital scoliosis: a minimum of 5-year follow-up
1个月前
已完结
Prenatal diagnosis of hemivertebra in association with dextrocardia, atrioventricular septal defect and preaxial polydactyl
1个月前
已完结
The Clinical Value of Prenatal 3D Ultrasonic Diagnosis on Fetus Hemivertebra Deformity- A Preliminary Study
2个月前
已关闭
Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
2个月前
已完结
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect
2个月前
已完结
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