Lv6
2518 积分 2023-10-09 加入
Alirocumab efficacy and safety by race and ethnicity: Analysis from 3 ODYSSEY phase 3 trials
16天前
已完结
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
24天前
已完结
Skipping of Exon 14 and Possible Instability of Both the mRNA and the Resultant Truncated Protein Underlie a Common Cholesteryl Ester Transfer Protein Deficiency in Japan
24天前
已完结
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
1个月前
已完结
Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan‐Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition
1个月前
已完结
Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis
2个月前
已完结
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome
3个月前
已完结
Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the aneuploid cell line
3个月前
已关闭
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
3个月前
已完结
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
3个月前
已完结
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