Niu Li

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 9

Top Topics

Intellectual Disability

Top Venues

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Huanhuan Liang, Niu Li, Ru-En Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis. Molecular genetics & genomic medicine 9 (11) (2021)
Songyang Sun, Lin Chen, Yuchuan Wang, Jian Wang, Niu Li, Xike Wang
Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree. Molecular genetics & genomic medicine 8 (12) (2020)
Chen Wang, Yufei Xu, Yanrong Qing, Ru-En Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations. Molecular genetics & genomic medicine 8 (10) (2020)
Yirou Wang, Niu Li, Zhe Su, Yufei Xu, Shijian Liu, Yao Chen, Xin Li, Yiping Shen, Christina Hung, Jian Wang, Xiumin Wang, Olaf A Bodamer
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. American journal of medical genetics. Part A 182 (4) (2019)
Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Ruen Yao, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. American journal of medical genetics. Part A 173 (12) (2017)