Lv51
1450 积分 2025-04-03 加入
The GluN2B-Trp373 NMDA Receptor Variant is Associated with Autism-, Epilepsy-Related Phenotypes and Reduces NMDA Receptor Currents in Rats
2天前
已完结
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum
3天前
已完结
Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management
3天前
已完结
Red Blood Cell Membrane-Related Gene Variants and Clinical Risk Factors in Chinese Neonates with Hyperbilirubinemia
10天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
12天前
已完结
Phenotypic and molecular features of Thai patients with primary carnitine deficiency
13天前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
16天前
已完结
A nationwide survey of Schaaf-Yang syndrome in Japan
23天前
已完结
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
1个月前
已完结
Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients
1个月前
已完结
Transparent Wood and Bamboo for Next-Generation Flexible Electronics: A Review
30天前
已采纳
成人隐匿性自身免疫性糖尿病的遗传背景及免疫特性研究进展
30天前
已采纳
Lactylome-based investigation of osteoarthritic subchondral bone reveals cell-specific differential expression of histone H4K12 lactylation: an experimental study
1个月前
已采纳
Principles and approaches for the machining simulation of ceramic matrix composites at microscale: A review and outlook
2个月前
已采纳
Altered Reward Circuit Function Moderates the Relationship between Childhood Maltreatment and Depression Severity in Adolescents
2个月前
已采纳
Phytohormones in a universe of regulatory metabolites: lessons from jasmonate
2个月前
已采纳
Additive manufacturing of polymer derived ceramics: Materials, methods, and applications
2个月前
已采纳
Reaction mechanism between carbon and CaO–SiO2–Al2O3–Na2O slag system during continuous casting process
2个月前
已采纳
Transforaminal lumbar interbody fusion with a silicon nitride cage demonstrates early radiographic fusion
2个月前
已采纳
USP18 recruits USP20 to promote innate antiviral response through deubiquitinating STING/MITA
2个月前
已采纳
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