Nuo Si

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Yin Liu, Yuval Ramot, Antonio Torrelo et al. · Arthritis & Rheumatism · 2011 · 401 citations

Medicine, Dermatology, Genetics +17

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Jiaqi Liu, Nan Wu, Nan Yang et al. · Genetics in Medicine · 2019 · 90 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Novel <b><i>TRPM6</i></b> Mutations in Familial Hypomagnesemia with Secondary Hypocalcemia

Zhen Zhao, Yu Pei, Xianglan Huang et al. · American Journal of Nephrology · 2013 · 35 citations

Life Sciences, Genetics, Molecular Genetics +17

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

Jun Yang, Lianqing Wang, Yingzhi Huang et al. · Frontiers of Medicine · 2019 · 32 citations

Life Sciences, Immunology, Molecular Genetics +6

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome

Jiacheng Li, Wei Wu, Chaoxia Lu et al. · Clinica Chimica Acta · 2017 · 27 citations

Life Sciences, Genetics, Molecular Genetics +9