Lv1
70 积分 2022-07-04 加入
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
11天前
已完结
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China
15天前
已完结
Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns
28天前
已完结
Genetics of 67 patients of suspected primary ciliary dyskinesia from India
1个月前
已完结
Genetics of Congenital Adrenal Hyperplasia
1个月前
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
2个月前
已完结
Low‐Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses
3个月前
已完结
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
3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
3个月前
已完结
Case Report: A new UBA2 variant in a Chinese family with aplasia cutis congenita
3个月前
已完结
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