A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome
2017 · Scientific Reports · 13 citations
https://doi.org/10.1038/srep44271
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Qian Chen
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Qian Chen is an academic researcher from Fujian Medical University. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases. The author has an h-index of 8, co-authored 27 publications.
ORCID: 0000-0001-9566-9003Papers by this author
worksClinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
2017 · BMC Medical Genetics · 13 citations
https://doi.org/10.1186/s12881-017-0486-4
A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review
2023 · BMC Medical Genomics · 8 citations
https://doi.org/10.1186/s12920-023-01577-w
Case report: a rare concurrence of dense deposit disease in an adolescent patient with IgA nephropathy
2025 · BMC Pediatrics · 0 citations
https://doi.org/10.1186/s12887-025-05415-z
A rare concurrence of monoclonal gammopathies in an older adult with tubulointerstitial nephritis and uveitis syndrome
2025 · BMC Geriatrics · 0 citations
https://doi.org/10.1186/s12877-025-06151-w
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