Search Results - "rare diseases"

Editorial: Emergency medicine in pediatric patients with chronic diseases by Emmanuel Schneck, Johannes Wolff, Jan-Thorsten Graesner, Holger Hauch

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Progression of skin lesions in Warburg-Cinotti syndrome by Christopher A. Ours, MD, Leslie G. Biesecker, MD, Thomas N. Darling, MD, PhD

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Child Health and Surgery: A Challenge for Future Clinical Research by Gloria Pelizzo, Valeria Calcaterra

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Multifocal Cutaneous Rosai-Dorfman Disease Treated With Localized Radiotherapy by Gaetano Licata, Giovanni Spanò, Domenico Messina, Antonino Daidone, Leonardo Zichichi

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Psoríase pustulosa da infância: relato de caso Childhood pustular psoriasis: case report by Yuri Nogueira Chaves, Dulceane Natyara Cardoso, Priscila F. Landulfo Jorge, Ivonise Follador, Maria de Fátima Paim de Oliveira

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How to Value Orphan Drugs? A Review of European Value Assessment Frameworks by Alessandra Blonda, Yvonne Denier, Isabelle Huys, Steven Simoens

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report by Giada Moresco, Jole Costanza, Carlo Santaniello, Ornella Rondinone, Federico Grilli, Elisabetta Prada, Simona Orcesi, Ilaria Coro, Anna Pichiecchio, Paola Marchisio, Monica Miozzo, Laura Fontana, Donatella Milani

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Excision of Giant Retroperitoneal Immature Teratoma with post-operative chylous ascites by Sana Mosbahi, Sahla Sallemi, Nouha Ben Abdejelil, Salma Mani, Sabrine Ben Youssef, Samia Belhassen, Asma Achour, Saida Hidouri, Amina Wardeni, Lassaad Sahnoun, Mongi Mekki, Mohsen Belghith, Abdelfatteh Zakhama, Mondher Golli, Bahri Mahjoub, Abdellatif Nouri

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Congenital syphilis as the cause of multiple bone fractures in a young infant case report by Maria Koliou, Elpida Chatzicharalampous, Myria Charalambous, Kyriakos Aristeidou

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Leveraging stories of cardiac amyloidosis patients of African ancestry or descent to support patient-derived data elements for efficient diagnosis and treatment by Rachele M. Hendricks-Sturrup, Rachele M. Hendricks-Sturrup, Rachele M. Hendricks-Sturrup, Lauren M. Edgar, Christine Y. Lu, Christine Y. Lu, Christine Y. Lu

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Eosinophilic enterocolitis: A rare nosological entity by K Krati, Y Lemfadli, I Boujguenna, H Rais

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Tinea Amiantacea by Sarkar J, Sengupta B.N, Sharma M.K, Bhattacharya P, Barman M.K

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DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models by Koray Ütkür, Klaus Mayer, Maliha Khan, Thirishika Manivannan, Raffael Schaffrath, Ulrich Brinkmann

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Highly innovative drugs in the Czech Republic: retrospective analysis of impact on early market entry, regular reimbursement system entry and public pharmaceutical expenditure by Anna Lukačišinová, Helena Skácelová

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Challenges in Communicating a Genetic Diagnosis by Francisco Cammarata-Scalisi, Colin Eric Willoughby, Vito Romano, Michele Callea

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Cherubism in two siblings; a case report by Deirdre Coffey, Rhian Fitzgerald

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Scientific and Artful Voices of Resilience by Pallavi R. Devchand

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Acute Panmyelosis with Myelofibrosis: The Serpentine Road to Diagnosis by Celia Suriu, Andrei Braester, Masad Barhoum

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Gamma-Delta T Cell Acute Lymphoblastic Leukemia: A Single-Center Experience by Donnellan W, Mineishi S, Wicker J, Paluri R

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The measurement of physical functioning among patients with Tenosynovial Giant Cell Tumor (TGCT) using the Patient-Reported Outcomes Measurement Information System (PROMIS) by Heather L. Gelhorn, Xin Ye, Rebecca M. Speck, Sandra Tong, John H. Healey, Susan V. Bukata, Richard D. Lackman, Lindsey Murray, Grant Maclaine, William R. Lenderking, Henry H. Hsu, Paul S. Lin, William D. Tap

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