Lv31
272 积分 2022-07-05 加入
GANAB c.1118C > T is a novel variant in patients with polycystic liver disease / polycystic kidney disease
1小时前
待确认
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
2个月前
已完结
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
2个月前
已完结
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
2个月前
已完结
Genetic Analysis and Reporting from Whole-Exome Sequencing Data in 1052 Patients with Intellectual Disability
2个月前
已关闭
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations
2个月前
已完结
Phenotypic variability associated with 14 splice-site mutations in the NF2 gene
4个月前
已完结
Protein S: function, regulation, and clinical perspectives
4个月前
已完结
Recent advances in ABCG5 and ABCG8 variants
4个月前
已完结
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
4个月前
已完结
浓硫酸储运过程中影响色度的原因分析及措施
2年前
已采纳
餐饮企业税收筹划与税收风险分析
2年前
已采纳
消化道肿瘤完全植入式给药装置临床应用中国专家共识及操作指南(2019版)
2年前
已采纳
北京市顺义区87名健康人中产气荚膜梭菌携带特征研究
2年前
已采纳
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