Jun Liang

发表

Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.

Z. Bhuiyan, M. Belfiore, A. Alswaid, 2014, International journal of cardiology.

A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism

Bing-Li Liu, Huai-Dong Song, Ying Ru, 2009, Human mutation.

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

Huai-Dong Song, Jun-Xiu Zhang, F. Cheng, 2021, Clinical endocrinology.

Identification of steroid biosynthetic defects in genotype‐proven heterozygous individuals for 17α‐hydroxylase/17,20‐lyase deficiency

Bing-Li Liu, Huai-Dong Song, Yan Gu, 2010, Clinical endocrinology.

Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population.

G. Gao, Bing-Li Liu, Zhao-hui Gu, 2014, European journal of endocrinology.

Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study

W. Liu, Chang-gui Li, G. Gao, 2013, Human Genetics.

Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway

Huai-Dong Song, Liu Yang, F. Cheng, 2023, Journal of Medical Genetics.

Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population.

G. Gao, Bing-Li Liu, Zhao-hui Gu, 2014, European journal of endocrinology.

Genetic screening and functional analysis of TPO variants in Chinese patients with congenital hypothyroidism.

Huai-Dong Song, Liu Yang, F. Cheng, 2023, Hormone research in paediatrics.