Search Results - "rare diseases"

Management of hereditary angioedema in pregnant women: a review by Caballero T, Canabal J, Rivero-Paparoni D, Cabañas R

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Intraoperative endoscopy-assisted tumor debulking in pediatric peutz-jeghers syndrome with early onset massive polyp burden phenotype by Maria E. Tecos, Matthew Ballweg, Andrew Huang-Pacheco, Angela Hanna, Abdalla Zarroug, Patrick Thomas

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The genetic determinants of oral diseases in Africa: The gaps should be filled by Stephen M. Sudi, Salma Kabbashi, Imaan A. Roomaney, Marwa Aborass, Manogari Chetty

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Enhancing the Effectiveness of Oligonucleotide Therapeutics Using Cell-Penetrating Peptide Conjugation, Chemical Modification, and Carrier-Based Delivery Strategies by Saeed Anwar, Farin Mir, Toshifumi Yokota

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Two sisters with Mayer-Rokitansky-Küster-Hauser syndrome and serous adenocarcinoma of the ovary by Sarah P. Huepenbecker, Laura Divine, Christina S. Chu, David G. Mutch

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Course for the qualification of nurses in the care of children with genetic diseases: an experience report by Silvani Herber, Fernanda Araújo Rodrigues, Alessandra Vaccari

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Type III collagen disorders: A case report and review of literature by A Anitha, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal

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De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis by Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan

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Primary angiosarcoma of the oral cavity in a young adult by Bhagat Singh Lali, Zachariah Chowdhury, Monika Gupta, Aseem Mishra

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A method of reconstruction after pancreaticoduodenectomy for pancreatic malignancies in very young children: Two cases reports by Angela Inviati, Marco Vito Martino Marino, Olena Kolesnik, Grigoriy Klimnuk, Galyna Shabat, Andrey Lukashenko, Gaspare Gulotta, Sebastiano Bonventre

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Mucosa-associated lymphoid tissue (MALT) lymphoma of the small intestine by A. M. Sidorenko, V. V. Boiarskyi, D. A. Tsvetaeva-Berest

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Composition of lipid nanoparticles for targeted delivery: application to mRNA therapeutics by Olga Vasileva, Olga Zaborova, Olga Zaborova, Bogdan Shmykov, Roman Ivanov, Vasiliy Reshetnikov

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Nursing of an adult patient with Fabry disease (1例成人罕见法布里病患者的护理) by YU Weiwei (余卫卫), YU Lingling (于玲玲), CHEN Ting (陈婷)

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The biosimilars journey: current status and ongoing challenges by Igor Age Kos, Valderílio Feijó Azevedo, Daniel Egg Neto, Sérgio Cândido Kowalski

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The case number 52 of Ruprecht Majewski-Bosma syndrome associated with atrial septal defect by Aamir Jalal Al Mosawi

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Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis by Liu L, Chen J, Li J, Yang Y, Zeng X, Tian X

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[Translated article] Effect of Drug Compounding on Quality of Life in Patients With Genodermatoses: A Cross-Sectional Study by M. Oro-Ayude, A. Batalla, C. Dávila-Pousa, L. González-Freire, Á. Flórez

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Assessing the Application of Large Language Models in Generating Dermatologic Patient Education Materials According to Reading Level: Qualitative Study by Raphaella Lambert, Zi-Yi Choo, Kelsey Gradwohl, Liesl Schroedl, Arlene Ruiz De Luzuriaga

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ASIA syndrome and the nociceptive storm: A case report of a refractory headache and a pathophysiological hypothesis by Luana Miyahira Makita, Giovanna Grossklags Locatelli, Giovanna Porreca Josetti, Giovana Takeshita Itimura, Elcio Juliato Piovesan

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Colon stenosis due to acute neonatal appendicitis in a preterm baby: a case report by Takuto Naito, Hiromu Teramen, Hiroaki Hayashi, Mai Takegawa, Haruko Sakamoto, Toshihide Shimada, Koichi Ohno, Misao Yoshii

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