Works about RARE diseases
Results: 5000
A unique e-health and telemedicine implementation: European Reference Networks for rare diseases.
- Published in:
- Journal of Public Health: From Theory to Practice (2198-1833), 2020, v. 28, n. 2, p. 223, doi. 10.1007/s10389-019-01052-w
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- Publication type:
- Article
Decreto 7/2024, de 25 de abril, por el que se modifica el Decreto 121/2007, de 20 de diciembre, por el que se regula el ejercicio del derecho a la segunda opinión médica en el Sistema de Salud de Castilla y León [bocyl-d-29042024-1].
- Published in:
- AIS: Ars Iuris Salmanticensis, 2024, v. 12, n. 2, p. 115
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- Publication type:
- Article
Pediatric Silent Sinus Syndrome: A Case Report and Literature Review.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2025, v. 134, n. 4, p. 284, doi. 10.1177/00034894241302143
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- Publication type:
- Article
Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123 I-mIBG Scintigraphy.
- Published in:
- Diagnostics (2075-4418), 2025, v. 15, n. 4, p. 508, doi. 10.3390/diagnostics15040508
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- Publication type:
- Article
Integrating Machine Learning-Based Approaches into the Design of ASO Therapies.
- Published in:
- Genes, 2025, v. 16, n. 2, p. 185, doi. 10.3390/genes16020185
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- Publication type:
- Article
Rare genetic disorders and the heightened importance of baseline motor examinations in children and adolescents experiencing a first episode of psychosis.
- Published in:
- 2025
- By:
- Publication type:
- Letter to the Editor
Metodología JUNTS de creación de webapps para el abordaje de barreras en la comunicación médico-paciente: el caso de la aplicación COMJuntos en el ámbito de las enfermedades raras.
- Published in:
- Teknokultura: Revista de Cultura Digital y Movimientos Sociales, 2021, v. 18, n. 2, p. 157, doi. 10.5209/TEKN.73595
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- Publication type:
- Article
A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches.
- Published in:
- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-90450-0
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- Publication type:
- Article
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03581-y
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- Publication type:
- Article
Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03595-6
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- Publication type:
- Article
Austausch zu seltenen Erkrankungen.
- Published in:
- 2012
- Publication type:
- Web Site Review
Sarcomatoid squamous cell carcinoma with overlying Bowen's disease in a patient presenting with chronic toe ulceration in diabetes.
- Published in:
- Diabetic Foot Journal, 2022, v. 25, n. 3, p. 18
- By:
- Publication type:
- Article
HODGKIN LYMPHOMA OF STERNUM: A RARE OCCURRENCE.
- Published in:
- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 120
- By:
- Publication type:
- Article
Kyste osseux anévrysmal de l'os naviculaire chez l'adulte : à propos d'un cas et revue de la littérature.
- Published in:
- Foot Medicine & Surgery / Medecine et Chirurgie du Pied, 2024, v. 39, n. 1, p. 21, doi. 10.1684/mcp.2024.0101
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- Publication type:
- Article
An Unusual Case of Early Dental Implant Failure in an Otherwise-Healthy Patient due to Actinomycosis.
- Published in:
- Journal of Oral Implantology, 2022, v. 48, n. 3, p. 226, doi. 10.1563/aaid-joi-D-20-00301
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- Publication type:
- Article
Spesolimab in generalised pustular psoriasis flares: a profile of its use.
- Published in:
- Drugs & Therapy Perspectives, 2023, v. 39, n. 12, p. 404, doi. 10.1007/s40267-023-01034-9
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- Publication type:
- Article
Manage idiopathic hypersomnia with a combination of non-pharmacological and pharmacological treatments.
- Published in:
- Drugs & Therapy Perspectives, 2023, v. 39, n. 11, p. 378, doi. 10.1007/s40267-023-01028-7
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- Publication type:
- Article
Mitotane in adrenocortical carcinoma: a profile of its use.
- Published in:
- Drugs & Therapy Perspectives, 2022, v. 38, n. 12, p. 508, doi. 10.1007/s40267-022-00958-y
- By:
- Publication type:
- Article
Enfermedad de Caffey. Reporte de un caso.
- Published in:
- Acta Ortopédica Mexicana, 2013, v. 27, n. 2, p. 114
- By:
- Publication type:
- Article
Progress in the Management of Pregnancy with Paroxysmal Nocturnal Hemoglobinuria: A Review.
- Published in:
- Journal of Women's Health (15409996), 2024, v. 33, n. 1, p. 98, doi. 10.1089/jwh.2023.0164
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- Publication type:
- Article
HHS awards $2.4 million for rare disease research.
- Published in:
- Public Health Reports, 1990, v. 105, n. 2, p. 212
- Publication type:
- Article
Thyroglossal Duct Cyst: Abbreviated Review and Case Report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Renal cell carcinoma arising from a horseshoe kidney in a chronic hemodialysis patient.
- Published in:
- Clinical & Experimental Nephrology, 2012, v. 16, n. 4, p. 647, doi. 10.1007/s10157-012-0661-z
- By:
- Publication type:
- Article
Internet-based enrollment of a myositis patient cohort—a national experience.
- Published in:
- Clinical Rheumatology, 2024, v. 43, n. 10, p. 3157, doi. 10.1007/s10067-024-07091-3
- By:
- Publication type:
- Article
Myositis as a prominent manifestation of primary skeletal muscle peripheral T-cell lymphoma: a case report and literature review.
- Published in:
- Clinical Rheumatology, 2024, v. 43, n. 7, p. 2343, doi. 10.1007/s10067-024-07003-5
- By:
- Publication type:
- Article
Burden of illness associated with eosinophilic granulomatosis with polyangiitis: a systematic literature review and meta-analysis.
- Published in:
- Clinical Rheumatology, 2021, v. 40, n. 12, p. 4829, doi. 10.1007/s10067-021-05783-8
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- Publication type:
- Article
The relationship between JAK2(V617F) mutation and dermatomyositis—a case report and literature review.
- Published in:
- Clinical Rheumatology, 2021, v. 40, n. 3, p. 1147, doi. 10.1007/s10067-020-05286-y
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- Publication type:
- Article
Diagnosing relapsing polychondritis remains a common challenge: experience from a Chinese retrospective cohort.
- Published in:
- Clinical Rheumatology, 2020, v. 39, n. 7, p. 2179, doi. 10.1007/s10067-019-04852-3
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- Publication type:
- Article
Efficacy of rituximab in resistant palindromic rheumatism: first report in literature.
- Published in:
- Clinical Rheumatology, 2019, v. 38, n. 9, p. 2399, doi. 10.1007/s10067-019-04578-2
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- Publication type:
- Article
Acute prolonged motor aura resembling ischemic stroke after COVID − 19 vaccination (CoronaVac): the first case report.
- Published in:
- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01311-w
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- Publication type:
- Article
Episodic headache with spontaneous hypothermia reveal Shapiro's syndrome variant with effectiveness of clonidine therapy.
- Published in:
- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01245-3
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- Publication type:
- Article
Mycobacterium kansasii Pericarditis as a Presentation of AIDS.
- Published in:
- Infection, 2001, v. 29, n. 1, p. 48, doi. 10.1007/s15010-001-0061-x
- By:
- Publication type:
- Article
Survival in Mudejar Spain in the Middle Ages (thirteenth–fourteenth centuries): Ancient Rare Diseases—an uncommon diagnosis in archaeological human remains.
- Published in:
- International Orthopaedics, 2023, v. 47, n. 11, p. 2869, doi. 10.1007/s00264-023-05863-1
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- Publication type:
- Article
Characteristics and outcomes of obstetric brachial plexus palsy in a single Saudi center: an experience of ten years.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Primary lymphoma of bone: outcome and role of surgery.
- Published in:
- International Orthopaedics, 2013, v. 37, n. 12, p. 2437, doi. 10.1007/s00264-013-2055-6
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- Publication type:
- Article
Osteoid osteoma of the shoulder and elbow: from diagnosis to minimally invasive removal.
- Published in:
- International Orthopaedics, 2013, v. 37, n. 12, p. 2403, doi. 10.1007/s00264-013-2060-9
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- Publication type:
- Article
A case of lung metastasis in myxoinflammatory fibroblastic sarcoma: analytical review of one hundred and thirty eight cases.
- Published in:
- International Orthopaedics, 2013, v. 37, n. 12, p. 2429, doi. 10.1007/s00264-013-2048-5
- By:
- Publication type:
- Article
Syringomatous dermatitis: a myth or an existing entity?
- Published in:
- 2023
- By:
- Publication type:
- Editorial
Single TCR-Vβ2 evaluation discloses the circulating T cell clone in Sezary syndrome: one family fits all!
- Published in:
- Archives of Dermatological Research, 2015, v. 307, n. 6, p. 487, doi. 10.1007/s00403-015-1548-0
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- Publication type:
- Article
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.
- Published in:
- Archives of Dermatological Research, 2014, v. 306, n. 8, p. 731, doi. 10.1007/s00403-014-1478-2
- By:
- Publication type:
- Article
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
- Published in:
- Archives of Dermatological Research, 2012, v. 304, n. 2, p. 171, doi. 10.1007/s00403-011-1190-4
- By:
- Publication type:
- Article
Endoscopic transoral resection for an upper cervical chordoma in a pediatric patient.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Cerebrospinal fluid dynamics in idiopathic intracranial hypertension: a literature review and validation of contemporary findings.
- Published in:
- Acta Neurochirurgica, 2021, v. 163, n. 12, p. 3353, doi. 10.1007/s00701-021-04940-x
- By:
- Publication type:
- Article
Expert Pathology for Gestational Trophoblastic Disease: Towards an International Multidisciplinary Team Meeting.
- Published in:
- Gynecologic & Obstetric Investigation, 2024, v. 89, n. 3, p. 166, doi. 10.1159/000536028
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- Publication type:
- Article
Primary Pulmonary Choriocarcinoma: Case Report and Review of the Literature.
- Published in:
- Gynecologic & Obstetric Investigation, 2012, v. 74, n. 2, p. 171, doi. 10.1159/000336784
- By:
- Publication type:
- Article
Pyomyoma in a Perimenopausal Woman with Intrauterine Device.
- Published in:
- Gynecologic & Obstetric Investigation, 2007, v. 63, n. 3, p. 170, doi. 10.1159/000097370
- By:
- Publication type:
- Article
Familial Occurrence of Cervical Artery Dissection - Coincidence or Sign of Familial Predisposition?
- Published in:
- Cerebrovascular Diseases, 2012, v. 33, n. 5, p. 466, doi. 10.1159/000337035
- By:
- Publication type:
- Article
Eleven Years' Experience with Korean Cardiac Myxoma Patients: Focus on Embolic Complications.
- Published in:
- Cerebrovascular Diseases, 2012, v. 33, n. 5, p. 471, doi. 10.1159/000335830
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- Publication type:
- Article
Seltene Erkrankungen in der Anästhesie: Wissensbeschaffung und Kernpunkte der perioperativen anästhesiologischen Versorgung.
- Published in:
- Die Anaesthesiologie, 2023, v. 72, n. 12, p. 907, doi. 10.1007/s00101-023-01353-6
- By:
- Publication type:
- Article
Complex Communication Needs of a Child with Dandy-Walker Syndrome and Mucopolysaccharidosis Type II Case Study.
- Published in:
- 2021
- By:
- Publication type:
- Case Study