Lv4
590 积分 2021-08-07 加入
Biallelic variants inDNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
2小时前
已完结
Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing
16天前
已完结
A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment
18天前
已完结
Congenital Cytomegalovirus Infection: Update on Screening, Diagnosis and Treatment
19天前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
2个月前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
2个月前
已完结
Chest pain with diffuse ST segment elevation
5个月前
已完结
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies
9个月前
已完结
Detection of chromosomal abnormalities and monogenic variants in fetal cfDNA for prenatal diagnosis
9个月前
已完结
Umbilical–portal–systemic venous shunt and fetal growth restriction: An Inquiry from a Prospective Study
10个月前
已完结
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