Ming Li

发表

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

M. Zasloff, M. Whyte, Jaimo Ahn, 2002, The New England journal of medicine.

Original article: INHERITANCE INVOLVED IN THE PATHOGENESIS OF IDIOPATHIC SCOLIOSIS

Xing Fan, L. Shangguan, Ming Li, 2008 .

GNAS1 Mutation and Cbfa1 Misexpression in a Child with Severe Congenital Platelike Osteoma Cutis

L. Audí, S. Mathur, F. Gannon, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Yindong Shi, Li-jia Yang, Ming Li, 2007, Archives of Dermatological Research.

A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3.

Lin He, G. Feng, Wen‐yuan Zhu, 2006, The Journal of investigative dermatology.

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature

Zhenlu Li, Ming Li, Chen Wang, 2021, The Journal of dermatology.

Identification a novel missense mutation p.R761L in Chinese patients with Darier’s disease

Li-jia Yang, Guo-long Zhang, Ming Li, 2010, Archives of Dermatological Research.

A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.

Wen‐yuan Zhu, D. Luo, Li-jia Yang, 2005, Journal of dermatological science.

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria

Guolong Zhang, Z. Yao, M. Lai, 2010, Archives of Dermatological Research.

Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme

E. Peskett, E. Pauws, W. Baird, 2017, Biology Open.

A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia

Li-jia Yang, Xiao-hong Zhu, Ming Li, 2008, Archives of Dermatological Research.

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma

Li-jia Yang, Xiao-hong Zhu, Ming Li, 2009, Archives of Dermatological Research.

Multiple condylomata lata: a case report

Xiaohong Zhu, Li-jia Yang, Haikang Hua, 2007, International journal of dermatology.

Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria

Wen‐yuan Zhu, Li-jia Yang, Yan Lu, 2005, Archives of Dermatological Research.

A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines.

Xueli Li, Jia Zhang, Zhexin Wang, 2017, Acta dermato-venereologica.

[Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma].

Li-jia Yang, Guo-long Zhang, Ling Wei, 2008, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.