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Niu Li

8PUBLICATIONS

24CO-AUTHORS

Flight dynamicsDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesCancer geneticsNeonatology

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Publications (8)

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|Jul 29, 2025

Alu-mediated FANCD2 exonic deletion contributes to Fanconi anaemia.

Shaofang Shangguan, Xinyuan Cui, Juanjuan Li

|Apr 30, 2025

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Yu Ding, Qianwen Zhang, Shiyang Gao

|Dec 23, 2022

Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.

Jie Tang, Niu Li, Guoqiang Li

|Sep 21, 2021

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Huanhuan Liang, Niu Li, Ru-En Yao

|Oct 19, 2020

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

Chen Wang, Yufei Xu, Yanrong Qing

|Oct 01, 2020

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.

Songyang Sun, Lin Chen, Yuchuan Wang

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Frequent Collaborators

4 joint publications

Ruen Yao

2 joint publications

Jian Wang

1 joint publications

Jian Wang

1 joint publications

Yiping Shen

1 joint publications

Olaf Bodamer

1 joint publications

Chen Wang

1 joint publications

Huanhuan Liang

1 joint publications

Yu Ding

1 joint publications

Qianwen Zhang

1 joint publications

Shiyang Gao

Frequent Collaborators

4 joint publications

Ruen Yao

2 joint publications

Jian Wang

1 joint publications

Jian Wang

1 joint publications

Yiping Shen

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