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Gene|May 28, 2014
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratodermaHai-Ping Ke, Hu-Ling Jiang, Ya-Su Lv, et al.
Zhonghua Yi Xue Za Zhi|May 11, 2013
[Clinical diagnosis and treatment of familial medullary thyroid carcinoma caused by a p.C618Y RET proto-oncogene mutation in a Chinese pedigree]Jian-qiang Zhao, Liang Guo, Xiao-ping Qi, et al.
International Journal of Ophthalmology|December 19, 2015
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigreeQin-Kang Lu, Na Zhao, Ya-Su Lv, et al.
Molecular Medicine Reports|July 12, 2013
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigreesXiao-Ping Qi, Wen-Ting Liu, Jin-Yu Li, et al.
Plos One|June 10, 2011
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyXiao-Ping Qi, Ju-Ming Ma, Zhen-Fang Du, et al.
Molecular Therapy. Nucleic Acids|March 23, 2016
A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA TherapyYa-Su Lyu, Pei-Liang Shi, Xiao-Ling Chen, et al.
Thyroid : Official Journal of the American Thyroid Association|December 6, 2012
RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in ChinaXiao-Ping Qi, Xiao-Ling Chen, Ju-Ming Ma, et al.
Gene|December 26, 2012
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitationsXiao-Ping Qi, Zhen-Fang Du, Ju-Ming Ma, et al.
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