Lv51
1317 积分 2022-05-11 加入
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
7小时前
待确认
dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection
13天前
已完结
[Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy]
1个月前
已完结
Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation
3个月前
已关闭
Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
4个月前
已完结
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
5个月前
已完结
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
5个月前
已完结
Detection of hemophilia a genetic variants using third-generation long-read sequencing
5个月前
已完结
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency
5个月前
已完结
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