A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China

Por Dai, Cong‐Ling, He, Wen‐Bin, Du, Juan, Tan, Yue‐Qiu, Lu, Guang‐Xiu, Li, Wen
Publicado no Clin Case Rep (2017)

Risk evaluation and preimplantation genetic diagnosis in an infertile man with an unbalanced translocation t(10;15) resulting in a healthy baby

Por Cheng, De-Hua, Gong, Fei, Lu, Chang-Fu, Li, Lu-Yun, Lu, Guang-Xiu, Tan, Yue-Qiu
Publicado em 2012

The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes

Por Xu, Fang, Zhang, Ya-Nan, Cheng, De-Hua, Tan, Ke, Zhong, Chang-Gao, Lu, Guang-Xiu, Lin, Ge, Tan, Yue-Qiu
Publicado em 2014

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Por Luo, Aixiang, Cheng, Dehua, Yuan, Shimin, Li, Haiyu, Du, Juan, Zhang, Yang, Yang, Chuanchun, Lin, Ge, Zhang, Wenyong, Tan, Yue-Qiu
Publicado no Mol Cytogenet (2018)

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

Por Yuan, Shi-Min, Huang, Huan, Tu, Chao-Feng, Du, Juan, Xu, Da-Bao, Lin, Ge, Lu, Guang-Xiu, Tan, Yue-Qiu
Publicado no Asian J Androl (2018)

Inner cell mass incarceration in 8-shaped blastocysts does not increase monozygotic twinning in preimplantation genetic diagnosis and screening patients

Por Gu, Yi-Fan, Zhou, Qin-Wei, Zhang, Shuo-Ping, Lu, Chang-Fu, Gong, Fei, Tan, Yue-Qiu, Lu, Guang-Xiu, Lin, Ge
Publicado no PLoS One (2018)

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

Por He, Wen-Bin, Tan, Yue-Qiu, Hu, Xiao, Li, Wen, Xiong, Bo, Luo, Ke-Li, Gong, Fei, Lu, Guang-Xiu, Lin, Ge, Du, Juan
Publicado no BMC Med Genet (2018)

Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency

Por Yang, Xiao‐Wen, He, Wen‐Bin, Gong, Fei, Li, Wen, Li, Xiu‐Rong, Zhong, Chang‐Gao, Lu, Guang‐Xiu, Lin, Ge, Du, Juan, Tan, Yue‐Qiu
Publicado no Mol Genet Genomic Med (2018)

Rapid quantification of semen hepatitis B virus DNA by real-time polymerase chain reaction

Por Qian, Wei-Ping, Tan, Yue-Qiu, Chen, Ying, Peng, Ying, Li, Zhi, Lu, Guang-Xiu, Lin, Marie C., Kung, Hsiang-Fu, He, Ming-Ling, Shing, Li-Ka
Publicado no World J Gastroenterol (2005)

Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

Por Guo, Li, Li, Bing-Xiao, Deng, Mei, Wen, Fang, Jiang, Jian-Hui, Tan, Yue-Qiu, Song, Yuan-Zong, Liu, Zhen-Huan, Zhang, Chun-Hua, Kobayashi, Keiko, Wang, Zi-Neng
Publicado em 2011

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Por Li, Haiyu, Du, Juan, Li, Wen, Cheng, Dehua, He, Wenbin, Yi, Duo, Xiong, Bo, Yuan, Shimin, Tu, Chaofeng, Meng, Lanlan, Luo, Aixiang, Lin, Ge, Lu, Guangxiu, Tan, Yue-Qiu
Publicado no Mol Cytogenet (2018)