Lv1
10 积分 2022-08-24 加入
Clinical report and genetic analysis of a Chinese family with retinitis pigmentosa 79 caused by a novel loss-of-function HK1 variant
6天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
18天前
已完结
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
29天前
已完结
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
29天前
已完结
Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy
1个月前
已完结
Unraveling Ventilator‐Induced Diaphragmatic Dysfunction: A Comprehensive Narrative Review on Pathogenesis, Diagnosis and Management of Ventilator‐Induced Diaphragmatic Dysfunction
2个月前
已完结
3D hierarchic interfacial assembly of Au nanocage@Au along with IS-AgMNPs for simultaneous, ultrasensitive, reliable, and quantitative SERS detection of colorectal cancer related miRNAs
3个月前
已完结
Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia
6个月前
已关闭
Defining the phenotypic spectrum of SLC6A1 mutations
6个月前
已完结
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
7个月前
已完结
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