Lv1
40 积分 2022-03-29 加入
Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation
1个月前
已完结
Thanatophoric dysplasia: Antenatal to postmortem
1个月前
已完结
Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review
1个月前
已完结
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)
2个月前
已完结
Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review
2个月前
已完结
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
2个月前
已完结
IFN-κ suppresses the replication of influenza A viruses through the IFNAR-MAPK-Fos-CHD6 axis
3个月前
已完结
Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review
3个月前
已完结
Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant
3个月前
已完结
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
4个月前
已关闭
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