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15068 积分 2023-12-15 加入
Low‐Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses
24天前
已完结
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
28天前
已完结
Improved diagnosis of patients with rare diseases through the application of constrained coding region annotation and de novo status
28天前
已关闭
Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series
1个月前
已完结
“Cock-walk” gait and “horseshoe moustache” sign on MRI in inherited hypermanganesemia
1个月前
已关闭
Integrating Optical Genome Mapping With Conventional Methods in Families Seeking Genetic Counseling
1个月前
已关闭
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
2个月前
已完结
Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS
4个月前
已完结
Wilson Disease
4个月前
已完结
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7
4个月前
已完结
Comprehensive analysis of thirteen-gene panel with prognosis value in Multiple Myeloma
22天前
已采纳
IL-37 ameliorates the inflammatory process in psoriasis by suppressing proinflammatory cytokine production
26天前
已撤回
The impact of digital public infrastructure on financial inclusion and economic growth in rural India: evidence from the UPI revolution
27天前
已采纳
Emerald Insight The impact of digital public infrastructure on financial inclusion and economic growth in rural India: evidence from the UPI revolution
27天前
已采纳
Insight into natural medium remediation through ecotoxicity correlation with clay catalyst selectivity in organic molecule ozonation
27天前
已采纳
Age and growth of the Archean Kongling terrain, South China, with emphasis on 3.3 ga granitoid gneisses
1个月前
已采纳
5 Evaluative morphology and language universals
1个月前
已采纳
Uptake and impact of carbon dots and their copper complex on tomato health
1个月前
已采纳
Pneumothorax: A Review
1个月前
已采纳
AB0225 FRAX ASSESSMENT IN PATIENTS WITH RHEUMATOID ARTHRITIS PREDICTED THE REAL INCIDENCE OF CLINICAL FRACTURES FOR 10 YEARS FROM THE RESULTS OF THE 10-YEAR TOMORROW STUDY
1个月前
已采纳
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