Search Results - "rare diseases"

A Case of Neutrophilic Dermatoses-Sweet’s Syndrome Coexisting with SAPHO Syndrome by Ma M, Wei S, Yin D, Li W, Li C

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From Serendipity to Rational Identification of the 5,6,7,8-Tetrahydrobenzo[4,5]thieno[2,3-<i>d</i>]pyrimidin-4(3<i>H</i>)-one Core as a New Chemotype of AKT1 Inhibitors for Acute M... by Andrea Astolfi, Francesca Milano, Deborah Palazzotti, Jose Brea, Maria Chiara Pismataro, Mariangela Morlando, Oriana Tabarrini, Maria Isabel Loza, Serena Massari, Maria Paola Martelli, Maria Letizia Barreca

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NeoAPACHE II. Relationship Between Radiographic Pulmonary Area and Pulmonary Hypertension, Mortality, and Hernia Recurrence in Newborns With CDH by Ilaria Amodeo, Nicola Pesenti, Nicola Pesenti, Genny Raffaeli, Genny Raffaeli, Francesco Macchini, Valentina Condò, Irene Borzani, Nicola Persico, Nicola Persico, Isabella Fabietti, Giulia Bischetti, Anna Maria Colli, Stefano Ghirardello, Stefano Ghirardello, Silvana Gangi, Mariarosa Colnaghi, Fabio Mosca, Fabio Mosca, Giacomo Cavallaro

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Plain language summary: clinical trial of BI 1015550 as a potential treatment for idiopathic pulmonary fibrosis by Luca Richeldi, Arata Azuma, Vincent Cottin, Christian Hesslinger, Susanne Stowasser, Claudia Valenzuela, Marlies S Wijsenbeek, Donald F Zoz, Florian Voss, Toby M Maher

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Understanding the management of pediatric spondylodiscitis based on existing literature; a systematic review by Narges Lashkarbolouk, Mahdi Mazandarani, Brice Ilharreborde, Mohammad Hossein Nabian

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Stevens-Johnson Syndrome - clinical symptoms, etiology, pathophysiology and medical treatment - a review of the literature by Karolina Szymkiewicz, Aleksandra Marczak, Michalina Hordejuk, Michał Hyjek

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Gaucher's disease in children: Case report from Afghanistan with literature review by Turyalai Hakimi, Omran Omar Amarkhil, Muhammad Arif Zamani, Mansoor Aslamzai, Salmai Turial, Mohammad Tareq Rahimi, Mohammad Anwar Jawed

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Parent-Child Assessment of Strengths and Difficulties of German Children and Adolescents Born With Esophageal Atresia by Stefanie Witt, Jens Dingemann, Michaela Dellenmark-Blom, Michaela Dellenmark-Blom, Julia Quitmann

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Neonatal lupus erythematosus infants and their mothers: a 10-year retrospective study by Chin-Yi Yang, I-Hsin Shih, Chih-Hsun Yang

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Penile Cancer in Cali, Colombia: 10 Years of Casuistry in a Tertiary Referral Center of a Middle-Income Country by Lina M. Rengifo, Maria del M. Herrera, Angie L. Rincon-Jimenez, Alberto J. Bermudez-Pupo, Francisco J. Bonilla-Escobar

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Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas by Junyoung Shin, Hee Jeong Kim, Dae-Yeon Kim, Gyungyub Gong, Kyung-Ja Cho

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Mycetoma in Uganda: A neglected tropical disease. by Richard Kwizera, Felix Bongomin, David B Meya, David W Denning, Ahmed H Fahal, Robert Lukande

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FK228 suppress the growth of human malignant pleural mesothelioma tumor independent to epithelioid or non-epithelioid histology by James Mei-Lin Chan, Yuan-Ching Chang, Hua-Chen Chan, Hsiu-Chuan Chan, Wei-Chin Chang, Liu-Fang Wang, Tung-Hu Tsai, Yu-Jen Chen, Wen-Chien Huang

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Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report by Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali

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Reimbursement Status and Recommendations Related to Orphan Drugs in European Countries by Ewa Stawowczyk, Krzysztof Piotr Malinowski, Paweł Kawalec, Rafał Bobiński, Jacek Siwiec, Dimitra Panteli, Dimitra Panteli, Dimitra Panteli, Helene Eckhardt, Helene Eckhardt, Helene Eckhardt, Steven Simoens, Antònia Agusti, Antònia Agusti, Marc Dooms, Andrzej Pilc, Andrzej Pilc

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Pattern of tissue destruction among patients diagnosed with cancrum oris (Noma) at a Northwestern Nigerian Hospital, Sokoto by Semiu Adetunji Adeniyi, Abdurazzaq Olanrewaju Taiwo, Adebayo Aremu Ibikunle, Ramat Oyebunmi Braimah, Olalekan Micah Gbotolorun, Mike Eghosa Ogbeide, Lateef Alani Yekini, F Moshood Adeyemi

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Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency by Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang, Yu Hu

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Horizon scanning in Brazil: outputs and repercussions by Pollyanna Teresa Cirilo Gomes, Verónica Elizabeth Mata, Thais Conceição Borges, Dayani Galato

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Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis by Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail, Hafiza Ammara, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Muhammad Yasir Zahoor, Amar J. Majmundar

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Congenital cystic adenomatoid malformation: the experience of a level III Neonatal Intensive Care Unit by Nuno Medeiros, Gustavo Rocha, Tiago Henriques-Coelho, Carla Ramalho, Hercília Guimarães

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