Lv1
50 积分 2022-07-04 加入
Genetics of Congenital Adrenal Hyperplasia
9天前
已完结
A multi-laboratory assessment of clinical exome sequencing for detection of hereditary disease variants: 4441 ClinVar variants for clinical genomic test development and validation
29天前
已完结
Low‐Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses
2个月前
已完结
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
2个月前
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
2个月前
已完结
Case Report: A new UBA2 variant in a Chinese family with aplasia cutis congenita
2个月前
已完结
Hereditary disorders of vitamin-D metabolism and its receptor
2个月前
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
3个月前
已完结
Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype
3个月前
已完结
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing
3个月前
已完结
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