Lv1
30 积分 2024-08-17 加入
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
19小时前
待确认
De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations
19小时前
已完结
A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate
2天前
已完结
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery
7天前
已完结
Chemical Fragments that Hydrogen Bond to Asp, Glu, Arg, and His Side Chains in Protein Binding Sites
7天前
已完结
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition
9天前
已完结
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism
13天前
已完结
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
19天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
23天前
已完结
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