Lv1
40 积分 2022-07-04 加入
Low‐Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses
8天前
已完结
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
8天前
已完结
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
8天前
已完结
Case Report: A new UBA2 variant in a Chinese family with aplasia cutis congenita
17天前
已完结
Hereditary disorders of vitamin-D metabolism and its receptor
17天前
已完结
An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study
1个月前
已完结
Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype
1个月前
已完结
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing
1个月前
已完结
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
2个月前
已完结
The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis
2个月前
已完结
皖公网安备34019202002308
