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Rare disease
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Current data, viewed at
Yearly
resolution.
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Keyword
keyword
Rare disease
RIS
0.001
(Research Intensity Score)
Papers
189
Top papers
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
2025 · 346 citations
Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants
2025 · 31 citations
Uveal melanoma: Current evidence on prognosis, treatment and potential developments
2024 · 47 citations
Role of mutations and post-translational modifications in systemic AL amyloidosis studied by cryo-EM
2021 · 107 citations
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
2020 · 188 citations
Newest papers
American Society of Hematology 2026 guidelines on diagnosis of light chain amyloidosis
2026 · 5 citations
Leukemia cutis and all-trans retinoic acid–induced myocarditis in acute promyelocytic leukemia
2026 · 1 citations
Case Report: NET of the ear- up to date in diagnostic and therapeutic challenges
2026 · 1 citations
Intestinal Duplication Cyst Mimicking Meckel Diverticulum
2026 · 1 citations
The Clinicopathological Characteristics and Prognosis of Cholangiolocarcinoma: A Multicenter Study With a Central Pathology Review
2026
A sample from the 100 top papers behind Rare disease.
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Rare disease's history
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Rare disease's papers
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