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Rare disease
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Rare disease
RIS
0.001
(Research Intensity Score)
Papers
201
Top papers
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
2025 · 322 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 · 44 citations
Role of mutations and post-translational modifications in systemic AL amyloidosis studied by cryo-EM
2021 · 102 citations
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome
2025 · 14 citations
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
2020 · 188 citations
American Society of Hematology 2026 guidelines on diagnosis of light chain amyloidosis
2026 · 5 citations
Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint
2023 · 20 citations
Manganese-loaded carbon nanoparticles ameliorate ANCA-associated vasculitis by inhibiting ferroptosis
2025 · 4 citations
Newest papers
American Society of Hematology 2026 guidelines on diagnosis of light chain amyloidosis
2026 · 5 citations
The Clinicopathological Characteristics and Prognosis of Cholangiolocarcinoma: A Multicenter Study With a Central Pathology Review
2026
Sex-specific genotype-phenotype landscape and prevalence of CASK -related disorder
2026
Acute myocardial infarction in desmoplakin cardiomyopathy: beyond a ‘hot phase’
2026
Ensuring access to Tau-Targeting therapies for MAPT frontotemporal dementia: patient community priorities for regulators and industry
2026
A Congenital Malignant Rhabdoid Tumor Revealed By A Blue Berry Muffin Baby Syndrome Misdiagnosed As Bilateral Neuroblastoma: A Case Report.
2026
A Case Suggestive of Intrathoracic Rupture of a Nonparasitic Hepatic Cyst in Polycystic Liver Disease: A Case Report
2026
An intractable case of primary intra-axial central nervous system Rosai–Dorfman disease
2026
Epidermoid Cyst of the Ureter Mimicking Recurrent Urothelial Carcinoma: A Case Report and Brief Literature Review
2026
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