खोज परिणाम - "rare diseases"

Dermatomiofibroma: relato de caso de doença rara Dermatomyofibroma: a case report of a rare disease द्वारा Priscila Marques de Macedo, Danielle Mann, Carolina Cotta Zimmerman, Maria de Fátima Guimarães Scotelaro Alves, Egon Luiz Rodrigues Daxbacher

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An Objective Approach to Identify Priority Rare Diseases for the Development of Solutions Reducing the Diagnostic Delay Based on French Data द्वारा Pierre Etienne Chazal, Ségolène Aymé

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Improving Insurance Protection for Rare Diseases: Economic Burden and Policy Effects - Simulation of People With Pompe Disease in China द्वारा Shanquan Chen, Dong Dong

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The experiences and perceptions of people with chronic and rare diseases during political-economic sanctions in Iran: a qualitative study द्वारा Mohammad Mehdi Kiani, Hakimeh Mostafavi, Fatemeh Ebrahimi, Reza Majdzadeh, Efat Mohamadi, Alexander Kraemer, Alireza Olyaeemanesh, Amirhossein Takian

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Hereditary Tyrosinemia Type 1-A Rare Disease with Typical Radiological Features: Case Report and Review of Literature द्वारा Somesh Singh, Rana Vishwadeep Mall, Pragya Chaturvedi, Rajnikant R. Yadav

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs द्वारा Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung

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NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012 द्वारा Dana-Teodora, Maria-Liliana Iliescu

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Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID‐19 pandemic द्वारा Malia Byun, Hollie Feller, Monica Ferrie, Stephanie Best

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Societal perspectives on disease and treatment attributes characterizing rare diseases: a qualitative study from the United States द्वारा Shelagh M. Szabo, Ivana F. Audhya, David Feeny, Peter Neumann, Daniel C. Malone, Katherine L. Gooch

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Hematocolpos on imperforated hymen and acute urinary retention A rare disease About seven observations and literature reviews द्वारा M Lahfaoui, H Benhaddou, F Ettaybi

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Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study द्वारा Svenja Litzkendorf, Martin Frank, Ana Babac, Daniel Rosenfeldt, Franziska Schauer, Tobias Hartz, J.-Matthias Graf von der Schulenburg

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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective द्वारा Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani

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Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland द्वारा Susanne Wehrli, Susanne Wehrli, Susanne Wehrli, Andrew A. Dwyer, Andrew A. Dwyer, Matthias R. Baumgartner, Matthias R. Baumgartner, Carmen Lehmann, Markus A. Landolt, Markus A. Landolt, Markus A. Landolt

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Oral lichen planus pemphigoid : a case report of a rare disease treated by topical Tacrolimus mouthwash and Hydroxychloroquine द्वारा Douley Jeremy, Fricain Jean-Christophe

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Rhabdomyosarcoma with an intratumoral adult type rhabdomyoma nodule with focal neuronal differentiation - diagnosis, prognosis and treatment of a rare disease द्वारा Suelen Cunha Santana, Filip Messias Santana Prado, Marcos Lima de Oliveira Leal, Paulo Athanazio, Daniel Abensur Athanazio

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A unique presentation of a rare disease: biopsy proven systemic lupus erythematosus and microscopic polyangitis: an overlap syndrome द्वारा Diana Meyler, Abilio Arrascaeta-Llanes, Ravi Gupta, Sanjay Godhwani

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Four cases of cutaneous Rosai-Dorfman in Black patients: A review of a single institution's experience with this rare disease द्वारा Sara Banbury, BA, Brian Chu, MD, Matthew L. Hedberg, MD, PhD, Temitayo A. Ogunleye, MD, Ellen Kim, MD, Misha Rosenbach, MD

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'It would be much easier if we were just quiet and disappeared': Parents silenced in the experience of caring for children with rare diseases द्वारा Genevieve Currie, Joanna Szabo

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Analysis of the Status and Tendency of R&D Input in the Field of Rare Diseases Funded by the National Natural Science Foundation of China द्वारा Hanyu Chang, Hanyu Chang, Wei Chu, Xiaodan Li, Jing Ma, Dingguo Li, Ni Yuan

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Comparative Analysis of Legislative Requirements About Patients' Access to Biotechnological Drugs for Rare Diseases in Central and Eastern European Countries द्वारा Maria Kamusheva, Manoela Manova, Manoela Manova, Alexandra T. Savova, Alexandra T. Savova, Guenka I. Petrova, Konstantin Mitov, András Harsányi, András Harsányi, Zoltán Kaló, Zoltán Kaló, Kristóf Márky, Pawel Kawalec, Bistra Angelovska, Dragana Lakić, Tomas Tesar, Pero Draganic, Mary Geitona, Magdalini Hatzikou, Marian S. Paveliu, Agnes Männik

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