Rui Zhao

发表

BMPR1B mutation causes Pierre Robin sequence

Yongjia Yang, H. Mei, Yimin Zhu, 2017, Oncotarget.

An autosomal dominant cataract locus mapped to 19q13-qter in a Chinese family

W. Xu, Jinsong Tang, Liping Li, 2011, Molecular vision.

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.

Shimin Zhao, P. Ray, L. Jin, 2019, American journal of human genetics.

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

Liping Li, Yongjia Yang, Sha Zhao, 2019, BMC Medical Genetics.

SNAI2 mutation causes human piebaldism

Ming Tu, Liping Li, Yongjia Yang, 2014, American journal of medical genetics. Part A.

A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family

Liping Li, Yongjia Yang, Zhi-guo Xie, 2013, BioMed research international.

A family with radio‐ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè–Tsukahara syndrome?

Liping Li, Yongjia Yang, H. Mei, 2012, American journal of medical genetics. Part A.

A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.

Jinsong Tang, W. Xu, Liping Li, 2011, Clinica chimica acta; international journal of clinical chemistry.

First report of HGD mutations in a Chinese with alkaptonuria.

Ling-Qian Wu, Yongjia Yang, Rui Zhao, 2013, Gene.

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Yongjia Yang, Tantai Zhao, Rui Zhao, 2015, TheScientificWorldJournal.

Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy

Yongjia Yang, Xu Yao, Rui Zhao, 2015, American journal of medical genetics. Part A.

Cytogenetic Analysis of Amniotic Fluid Cells in 4206 Cases of High-Risk Pregnant Women

Rui Zhao, Hua-feng Li, Yongli Li, 2019, Iranian journal of public health.

Trisomy 3 mosaicism in a 5‐year‐old boy with multiple anomalies: A very rare case

Yongjia Yang, Xu Yao, Rui Zhao, 2016, American Journal of Medical Genetics. Part A.

Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation.

Yongjia Yang, Zhi-guo Xie, Yimin Zhu, 2014, Genomics.