Lv51
940 积分 2023-09-12 加入
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
6天前
已关闭
Evidence for 28 genetic disorders discovered by combining healthcare and research data
6天前
已关闭
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
11天前
已关闭
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
11天前
已完结
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
14天前
已完结
De novo variants in neurodevelopmental disorders with epilepsy
14天前
已完结
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
1个月前
已完结
Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders
1个月前
已完结
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due toTTNmutations
1个月前
已完结
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due toTTNmutations
1个月前
已完结
Valorization of Camellia oleifera through integrated lignin extraction and tunable nanoparticle synthesis
3个月前
已采纳
Pediatric and Geriatric-Friendly Buccal Foams: Enhancing Omeprazole Delivery for Patients Encountering Swallowing Difficulties
3个月前
已采纳
Distractor filtering in media multitaskers
3个月前
已采纳
Knowledge Graph-Based Few-Shot Learning for Label of Medical Imaging Reports
3个月前
已采纳
Validation of the Laryngeal Cognitive-Affective Tool
3个月前
已采纳
Activation of innate immune receptor TLR9 by mitochondrial DNA plays essential roles in the chemical long-term depression of hippocampal neurons
3个月前
已采纳
Efficacy of concurrent utilization of estradiol valerate and Chinese herbal capsule in managing premature ovarian failure
3个月前
已采纳
Insights into the biosynthesis of icumazole, unveiling a distinctive family of crotonyl-CoA carboxylase/reductase
3个月前
已采纳
[Translated article] ‘À la carte’ treatment algorithm for patellofemoral instability
3个月前
已采纳
Proteogenomic characterization delineates clinically relevant subtypes of advanced differentiated thyroid cancer
3个月前
已采纳
皖公网安备34019202002308
