Landscape of pathogenic mutations in premature ovarian insufficiency
2023 · Nature Medicine · 195 citations
https://doi.org/10.1038/s41591-022-02194-3
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Shan Li
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Shan Li is an academic researcher from Capital Medical University. The author has contributed to research in topics: Connective tissue disorders research & Bone and Dental Protein Studies & Neurogenetic and Muscular Disorders Research. The author has an h-index of 14, co-authored 45 publications.
ORCID: 0000-0002-0272-6193Papers by this author
worksClinical spectrum of intrathoracic Castleman disease: a retrospective analysis of 48 cases in a single Chinese hospital
2015 · BMC Pulmonary Medicine · 46 citations
https://doi.org/10.1186/s12890-015-0019-x
Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-<i>N</i>-Acetylglucosamine-6-Sulfatase in Neonatal Mice
2020 · Molecular Pharmaceutics · 17 citations
https://doi.org/10.1021/acs.molpharmaceut.0c00831
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
2019 · BMC Medical Genetics · 14 citations
https://doi.org/10.1186/s12881-019-0933-5
Additional file 1: of Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
2018 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.7164383
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