whole-exome相关论文
Next-generation sequencing technologies have significantly accelerated the identification of disease-causing mutations a......
BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM ofte......
BACKGROUND Alport syndrome(ATS)is a rare hereditary disease caused by mutations in genes such as COL4A3,COL4A4,and COL4A......
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restr
Background: Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy in which the walls are rigid and the hea......
A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis
Objective:In some patients with adenomatous polyposis,an identifiable pathogenic variant of known associated genes canno......
Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment:A case rep
BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failureto thrive, facial dysmorphism,......
BACKGROUND Pediatric recurrent acute liver failure (RALF) with recovery between episodes is rare. Causes include autoimm......
Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing er
Autosomal recessive cerebellar ataxias(ARCA)are a clinically and genetically heterogeneous group of rare neurodegenerati......
Objective:Neuroendocrine neoplasms(NENs)are relatively rare and heterogeneous malignancies with two major subtypes:low-g......
Identifi cation of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndro
Objective:The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients......
