Search Results - "rare diseases"

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era by Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving

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Epidemiology and a Predictive Model of Prognosis Index Based on Machine Learning in Primary Breast Lymphoma: Population-Based Study by Yushuai Yu, Zelin Xu, Tinglei Shao, Kaiyan Huang, Ruiliang Chen, Xiaoqin Yu, Jie Zhang, Hui Han, Chuangui Song

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Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene by Patcharee Komvilaisak, Najwa Yudhasompop, Kittima Kanchanakamhaeng, Suradej Hongeng, Samart Pakakasama, Usanarat Anurathapan, Pongpak Pongphitcha, Duantida Songdej, Werasak Sasanakul, Nongnuch Sirachainan

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Cervical metastasis of gingival carcinoma misdiagnosed as branchiogenic carcinoma, a rare entity - report of a case and review of literature by Qingjia Sun, Mingxing Chen, Yuxin Sun, Xi Chen, Hongjun Xu, Lingjun Rong, Qiong Wu, Dongdong Zhu

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Pancreatitis del surco by Susana Araújo-Fernández, Alberto Fernández-Villaverde, María González-Vázquez, Javier De la Fuente-Aguado

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Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents by Toni Hospach, Fabian Glowatzki, Friederike Blankenburg, Dennis Conzelmann, Christian Stirnkorb, Chris Sandra Müllerschön, Peter von den Driesch, Lisa Maria Köhler, Meino Rohlfs, Christoph Klein, Fabian Hauck

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Bleeding in neonates with severe thrombocytopenia: a retrospective cohort study by Ting Peng, Yuanyuan Shan, Peng Zhang, Guoqiang Cheng

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Prevalence of bronchiectasis in adults: a meta-analysis by Lu Wang, Jiajia Wang, Guixiang Zhao, Jiansheng Li

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Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita by Concetta Altamura, Elena Conte, Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Giulia Maria Camerino, Paola Imbrici, Jean-François Desaphy

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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy by Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini

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Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes by Agnieszka Gach, Iwona Pinkier, Maria Szarras-Czapnik, Agata Sakowicz, Lucjusz Jakubowski

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Development of a Social Network for People Without a Diagnosis (RarePairs): Evaluation Study by Kühnle, Lara, Mücke, Urs, Lechner, Werner M, Klawonn, Frank, Grigull, Lorenz

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A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure by Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen

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Incremental health care resource utilization and expenditures associated with autosomal dominant polycystic kidney disease by Iyer NN, Vendetti NJ, Levy DI, Mardekian J, Mychaskiw MA, Thomas III J

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Evaluation of quantitative signal detection in EudraVigilance for orphan drugs: possible risk of false negatives by Marco Sardella, Calin Lungu

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Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome by Francesca Della Casa, Antonio Vitale, Marco Cattalini, Francesco La Torre, Giovanna Capozio, Giovanna Capozio, Emanuela Del Giudice, Maria Cristina Maggio, Giovanni Conti, Maria Alessio, Benson Ogunjimi, Benson Ogunjimi, Benson Ogunjimi, Benson Ogunjimi, Gaafar Ragab, Gaafar Ragab, Giacomo Emmi, Emma Aragona, Teresa Giani, Giuseppe Lopalco, Paola Parronchi, Farhad Shahram, Elena Verrecchia, Elena Verrecchia, Francesca Ricci, Fabio Cardinale, Silvia Di Noi, Rossana Nuzzolese, Riccardo Lubrano, Serena Patroniti, Roberta Naddei, Vito Sabato, Mohamed A. Hussein, Laura Dotta, Violetta Mastrorilli, Stefano Gentileschi, Abdurrahman Tufan, Valeria Caggiano, Mohamed Tharwat Hegazy, Mohamed Tharwat Hegazy, Jurgen Sota, Ibrahim A. Almaghlouth, Ibrahim A. Almaghlouth, Amr Ibrahim, Ewa Wiȩsik-Szewczyk, Burcugul Ozkiziltas, Salvatore Grosso, Micol Frassi, Maria Tarsia, Rosa Maria R. Pereira, Maged Taymour, Carla Gaggiano, Sergio Colella, Claudia Fabiani, Maria Morrone, Piero Ruscitti, Bruno Frediani, Veronica Spedicato, Henrique A. Mayrink Giardini, Alberto Balistreri, Donato Rigante, Donato Rigante, Luca Cantarini

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Respiratory symptoms of COVID-19 in an adolescent patient with WHIM syndrome: a clinical case by R.V. Tkachuk, O.K. Koloskova, M.N. Garas, T.M. Bilous, L.I. Romanchuk, I.B. Sichkar, B.I. Kushnir

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Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models by Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey

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Report and follow-up on two new patients with congenital mesoblastic nephroma by Gregorio Serra, Marcello Cimador, Mario Giuffrè, Vincenzo Insinga, Claudio Montante, Marco Pensabene, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello

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Thorahcic SMARCA4-deficient undifferentiated tumors with ganglioneuroma and enchondroma: implications for SLC7A11 and ARID1A expression: a case report by Yusuke Kito, Keisuke Kawashima, Chiemi Saigo, Masayoshi Hasegawa, Shusuke Nomura, Takuya Mikamo, Yuki Hanamatsu, Yasuhiro Matsuo, Tamostu Takeuchi

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