Search Results - "rare diseases"

Cervical Stump Cancer after Subtotal Hysterectomy: A Retrospective Research of 127 Cases from China and Literature Review by Jia Wang, Xi Zeng, Lin Min, Lin Li

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Artificial intelligence large language model ChatGPT: is it a trustworthy and reliable source of information for sarcoma patients? by Marisa Valentini, Joanna Szkandera, Maria Anna Smolle, Susanne Scheipl, Andreas Leithner, Dimosthenis Andreou

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Tolosa-Hunt syndrome in pediatric practice by E.V. Shishkina, T.N. Bazilevskaya, R.F. Izokhvatova, I.V. Novikova, Yu.V. Panfilova, M.Yu. Galaktionova, D.A. Maiseenko

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A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based studyResearch in context by Lakshmi Balaji, Robin Forbes, Anita Cairns, Hugo Sampaio, Andrew J. Kornberg, Lauren Sanders, Phillipa Lamont, Christina Liang, Kristi J. Jones, Kristen Nowak, Cullen O'Gorman, Ian Woodcock, Nancy Briggs, Eppie M. Yiu, Michelle A. Farrar, Didu Kariyawasam

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Gastric adenocarcinoma of the fundic gland type: clinicopathological features of eight patients treated with endoscopic submucosal dissection by Chengfang Li, Xinglong Wu, Shuang Yang, Xiaorong Yang, Jin Yao, Hong Zheng

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Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Cutis Verticis Gyrata: Case Report and Review of Literature by Wang Y, Wang S, Zheng L, Wang X, Wang H, Zhong Z, Liu S, Zheng X, Gao M

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Pronóstico materno y perinatal en el embarazo con deficiencia del factor XII by Amelia Vizcaíno M, Milagros Cruz M, Encarnación Arévalo R, Ana María Fernández A

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Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults by Gabriele Erbis, Kirstin Schmidt, Sandra Hansmann, Tetiana Sergiichuk, Christine Michler, Jasmin B. Kuemmerle-Deschner, Susanne M. Benseler

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Acalasia de esôfago de causa desconhecida na infância Esophageal achalasia of unknown etiology in children by Pedro M. Fernandez, Luiz A.G. Lucio, Fabíola Pollachi

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Barriers and Facilitators to Dental Care Services Utilization Among Children With Disabilities: A Systematic Review and Thematic Synthesis by Shiamaa Al‐Mashhadani, Mona Nasser, Anas Alsalami, Lorna Burns, Martha Paisi

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Symptoms of Oesophageal Affection in Children With Scleroderma According to Mano-Impedancemetry: A Case Series by Marina Ju. Stepanyan, Elena V. Komarova, Nikolay N. Murashkin, Ekaterina I. Alexeeva

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A single-center study of clinical features of pediatric Sjögren's syndrome by Ling Hou, Ningning Wang, Chengguang Zhao, Xiuli Wang, Yue Du

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AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes by Quentin Hennocq, Quentin Hennocq, Quentin Hennocq, Thomas Bongibault, Thomas Bongibault, Sandrine Marlin, Sandrine Marlin, Jeanne Amiel, Jeanne Amiel, Tania Attie-Bitach, Tania Attie-Bitach, Geneviève Baujat, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Stanislas Lyonnet, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Véronique Pingault, Thantrira Porntaveetus, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari, Roman H. Khonsari, Roman H. Khonsari

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Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome by Irina N. Artamonova, Anna M. Zlotina, Olga R. Ismagilova, Tatyana A. Levko, Natalia Yu Kolbina, Aleksandr V. Bryzzhin, Andrey P. Smorodin, Alexandr V. Borodin, Ekaterina A. Mamaeva, Anna A. Sukhotskaya, Ilya M. Kagantsov, Daria A. Malysheva, Elena S. Vasichkina, Tatiana M. Pervunina, Natalia A. Petrova

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Clinical case of desquamative erythroderma (Leiner's disease) in a young child by О.М. Shulhai, І.Y. Shostak, А.B. Kabakova, О.І. Khara

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Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review by Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu, Gang Zhang

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Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With Novel ATM Gene Mutations by Peng Huang, Peng Huang, Lu Zhang, Lu Zhang, Li Tang, Li Tang, Yi Ren, Yi Ren, Hong Peng, Hong Peng, Jie Xiong, Jie Xiong, Lingjuan Liu, Lingjuan Liu, Jie Xu, Jie Xu, Yangyang Xiao, Yangyang Xiao, Jian Li, Jian Li, Dingan Mao, Dingan Mao, Liqun Liu, Liqun Liu

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Identification of Piperlongumine as Potent Inhibitor of Necroptosis by He X, Li M, Ye Z, You X, Wang J, Xiao X, Zhu G, Wei J, Zha Y

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Artificial Intelligence System Application in Miliary Lung Metastasis: Experience from a Rare Case by Zhang Y, Chen Y, Li K, Jiang W, Zhang BC

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Mining Online Social Network Data for Biomedical Research: A Comparison of Clinicians' and Patients' Perceptions About Amyotrophic Lateral Sclerosis Treatments by Nakamura, Carlos, Bromberg, Mark, Bhargava, Shivani, Wicks, Paul, Zeng-Treitler, Qing

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