Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child

Por Bai, Jin-Li, Jin, Yu-Wei, Qu, Yu-Jin, Wang, Hong, Cao, Yan-Yan, Song, Fang
Publicado no Chin Med J (Engl) (2017)

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy

Por Qu, Yu-jin, Bai, Jin-li, Cao, Yan-yan, Zhang, Wen-hui, Wang, Hong, Jin, Yu-wei, Song, Fang
Publicado no Eur J Hum Genet (2016)

Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy

Por Cao, Yan-yan, Qu, Yu-jin, He, Sheng-xi, Li, Yan, Bai, Jin-li, Jin, Yu-wei, Wang, Hong, Song, Fang
Publicado no J Zhejiang Univ Sci B (2016)

A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome

Por GAO, Ying, BAI, Jin-li, LIU, Xiao-yan, QU, Yu-jin, CAO, Yan-yan, WANG, Jian-cai, JIN, Yu-wei, WANG, Hong, SONG, Fang
Publicado no J Zhejiang Univ Sci B (2015)

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene

Por Li, Yan, Qu, Yu-jin, Zhong, Xue-mei, Cao, Yan-yan, Jin, Li-min, Bai, Jin-li, Ma, Xin, Jin, Yu-wei, Wang, Hong, Zhang, Yan-ling, Song, Fang
Publicado em 2014