Works matching DE "RARE diseases"
Results: 5000
Endoscopic Approach to Laryngeal Schwannoma: A Case Report.
- Published in:
- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 3, p. 1626, doi. 10.1007/s12070-025-05341-7
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- Publication type:
- Article
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03614-6
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- Publication type:
- Article
Myoepithelioma-Like Tumor of the Vulvar Region: A Clinicopathologic Study of Four Cases.
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- International Journal of Surgical Pathology, 2025, v. 33, n. 2, p. 302, doi. 10.1177/10668969241260237
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- Article
Correction to: Quality of care for people with differences of sex development (DSD) in Germany.
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- 2025
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- Publication type:
- Correction Notice
Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions.
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- Sociology of Health & Illness, 2025, v. 47, n. 2, p. 1, doi. 10.1111/1467-9566.13854
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- Article
Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).
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- Nutrition & Metabolism, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12986-025-00900-9
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- Publication type:
- Article
Current and Emerging Therapeutic Strategies for the Management of Neurotrophic Keratitis: Neurotrophic Keratitis: J. Lacorzana et al.
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- Drugs, 2025, v. 85, n. 3, p. 283, doi. 10.1007/s40265-025-02147-3
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- Publication type:
- Article
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03435-z
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- Publication type:
- Article
Massive retroperitoneal haemorrhage after retrograde pyelogram in end-stage kidneys: A case report.
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- Proceedings of Singapore Healthcare, 2020, v. 29, n. 4, p. 256, doi. 10.1177/2010105820947437
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- Publication type:
- Article
Amniotic fluid embolism and management of coagulopathy: A case report with successful outcome.
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- Proceedings of Singapore Healthcare, 2020, v. 29, n. 3, p. 198, doi. 10.1177/2010105820929723
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- Publication type:
- Article
Chronic myeloid leukaemia with pulmonary leucostasis in a young Down syndrome patient.
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- Proceedings of Singapore Healthcare, 2020, v. 29, n. 3, p. 203, doi. 10.1177/2010105820929720
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- Publication type:
- Article
Frontal sinus mucocele in association with polyostotic fibrous dysplasia: A case report.
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- Proceedings of Singapore Healthcare, 2019, v. 28, n. 3, p. 208, doi. 10.1177/2010105818823787
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- Publication type:
- Article
Primary Thyroid Tuberculosis Diagnosed with CBNAAT.
- Published in:
- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1067, doi. 10.1007/s12070-024-05268-5
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- Publication type:
- Article
Lipoid Proteinosis—An Unusual Cause of Hoarseness of Voice in a Child: Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1011, doi. 10.1007/s12070-024-05219-0
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- Publication type:
- Article
Pneumoparotitis: A Rare Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1076, doi. 10.1007/s12070-024-05184-8
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- Publication type:
- Article
Recent and anticipated novel drug approvals (4Q 2024 through 3Q 2025).
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- American Journal of Health-System Pharmacy, 2025, v. 82, n. 6, p. 291, doi. 10.1093/ajhp/zxae352
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- Publication type:
- Article
Debates over orphan drug pricing: a meta-narrative literature review.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03634-2
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- Publication type:
- Article
Ten years of experience with elbow native joint arthritis: a multicenter retrospective cohort study.
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- Journal of Bone & Joint Infection (JBJI), 2025, v. 10, n. 1, p. 25, doi. 10.5194/jbji-10-25-2025
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- Publication type:
- Article
The case-only design is a powerful approach to detect interactions but should be used with caution.
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- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11318-1
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- Publication type:
- Article
Hyperkalaemic acidosis: blood pressure is the diagnostic clue.
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- Pediatric Nephrology, 2025, v. 40, n. 4, p. 967, doi. 10.1007/s00467-024-06590-4
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- Publication type:
- Article
The Mortality of Behcet's Disease.
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- Journal of Insurance Medicine, 2025, v. 52, n. 1, p. 1, doi. 10.17849/insm-52-1-1-2.1
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- Publication type:
- Article
Top 5 Beiträge.
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- Pharma + Food, 2025, p. 8
- Publication type:
- Article
Flexible und nachhaltige Toploading-Verpackungslinien.
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- Pharma + Food, 2025, p. 28
- Publication type:
- Article
Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary.
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- Yonsei Medical Journal, 2025, v. 66, n. 3, p. 187, doi. 10.3349/ymj.2023.0628
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- Publication type:
- Article
Inflammation clashing onto myocardial susceptibility: a tale of two rare diseases—a case report.
- Published in:
- 2025
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- Publication type:
- Case Study
Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.
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- Briefings in Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1093/bib/bbae667
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- Publication type:
- Article
Medicamentos de alto costo: el difícil equilibrio entre los derechos individuales y los derechos colectivos.
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- Pan American Journal of Public Health, 2024, v. 48, p. 1, doi. 10.26633/RPSP.2024.76
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- Publication type:
- Article
A unique e-health and telemedicine implementation: European Reference Networks for rare diseases.
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- 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
The Process of Diagnosing Xia Gibbs Syndrome in A Male Child with Autism Spectrum Disorder and AHDC1 Gene Mutation: Case Report.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2025, v. 62, n. 1, p. 84, doi. 10.29399/npa.28555
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- Publication type:
- Article
Coronary Endarteritis Secondary to Stent Infection, a Rare but Catastrophic Complication of Percutaneous Coronary Intervention: A Case Series and Review of Literature.
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- Indian Journal of Clinical Cardiology, 2025, v. 6, n. 1, p. 48, doi. 10.1177/26324636241284733
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- Publication type:
- Article
Wolff Parkinson White Syndrome with Rheumatic Mitral Stenosis: Double Trouble – Single Solution.
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- Indian Journal of Clinical Cardiology, 2025, v. 6, n. 1, p. 57, doi. 10.1177/26324636241265168
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- Publication type:
- Article
Challenges in diagnosing and treating ossifying fibroma in adolescent patients - a case report and review of literature.
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- BMC Oral Health, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12903-025-05547-9
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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].
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- 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.
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- Annals of Otology, Rhinology & Laryngology, 2025, v. 134, n. 4, p. 284, doi. 10.1177/00034894241302143
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- Publication type:
- Article
Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
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- Turkish Journal of Hematology, 2025, v. 42, n. 1, p. 61, doi. 10.4274/tjh.galenos.2025.2024.0373
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- Publication type:
- Article
Atrichia with Papular Lesions: Dermoscopy to the Rescue.
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- 2025
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- Publication type:
- Letter
Muscular Hydatidosis: A Rare Circumstance (Case Report).
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- Journal of Basic Research in Medical Sciences, 2025, v. 12, n. 1, p. 49
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- Publication type:
- Article
Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123 I-mIBG Scintigraphy.
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- 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.
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- Genes, 2025, v. 16, n. 2, p. 185, doi. 10.3390/genes16020185
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- Publication type:
- Article
Salivary Gland Cancers in the Era of Molecular Analysis: The Role of Tissue and Liquid Biomarkers.
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- Cancers, 2025, v. 17, n. 4, p. 660, doi. 10.3390/cancers17040660
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- Publication type:
- Article
Implications of Fumarate Hydratase Deficiency (FHD) and Cancer Risk: A Window into the Clinical and Oncological Implications of a Rare Disorder in Gynecology.
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- Cancers, 2025, v. 17, n. 4, p. 573, doi. 10.3390/cancers17040573
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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
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- Publication type:
- Letter to the Editor
Opsoclonus in a Patient with Scrub Typhus Infection: A Rare Neurological Manifestation.
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- Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 4, p. 2374
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- Publication type:
- Article
Pure Red Cell Aplasia.
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- Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 4, p. 230
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- Publication type:
- Article
An Unusual Case of Renal Extramedullary Haematopoiesis.
- Published in:
- Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 4, p. 227
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- Publication type:
- Article
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.
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- 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
Rare disease challenges and potential actions in the Middle East.
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- International Journal for Equity in Health, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12939-025-02388-4
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- Publication type:
- Article
A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches.
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- 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.
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- 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