Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

ISSNs: 1750-1172

BioMed Central

Scopus rating (2021): CiteScore 3.9

Indexed in DOAJ

Journal

Journal Metrics

Research Output

  1. 2021
  2. Published

    Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

    Gao, F., Wang, D., Li, J., Hu, F., Xu, P., Chen, F., Qi, Y. & 6 others, Liu, W., Li, W., Zhang, S., Chang, Q., Xu, G. & Wu, J., 2021, In: Orphanet Journal of Rare Diseases. 16, 174.

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

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  3. 2019
  4. Published

    Expanding the clinical and genetic spectrum of Heimler syndrome

    Gao, F., Hu, F., Xu, P., Qi, Y., Li, J., Zhang, Y., Chen, F. & 5 others, Chang, Q., Song, F., Shen, S., Xu, G. & Wu, J., 2019, In: Orphanet Journal of Rare Diseases. 14, 12 p., 290.

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

    Scopus citations: 6
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