Lv31
206 积分 2023-09-19 加入
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
5小时前
已关闭
Hypotonia and Poor Weight Gain in a 4-month-old Girl
11天前
已关闭
Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases
1个月前
已完结
“Mini Molar Tooth” Sign in POLR3B‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy
1个月前
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Diagnostic delay in Parkinson's disease caused by PRKN mutations
1个月前
已完结
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
2个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
3个月前
已关闭
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
3个月前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
3个月前
已完结
[The role of mutation in cardiac beta-myosin heavy chain gene in population of patients]
4个月前
已关闭
IL-1β induced down-regulation of miR-146a-5p promoted pyroptosis and apoptosis of corneal epithelial cell in dry eye disease through targeting STAT3
UHRF1 promotes renal cell carcinoma progression through epigenetic regulation of TXNIP
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