List of works by Zihui Yan

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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

scientific article published on 07 May 2020

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family

scientific article published on 10 August 2019

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

scientific article published on 27 November 2019

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

scientific article published on 17 August 2018

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

scientific article published on 26 September 2019

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

scientific article published on 14 January 2019

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

scientific article published on 17 July 2018

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