Search Results - "rare diseases"

Moving neuromuscular disorders research forward: from novel models to clinical studies by Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling

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Lymphoma with skin localization and COVID 19 - a clinical case and review of literature by Maria Moneva-Sakelarieva, Yozlem Kobakova, Spiro Konstantinov, Georgi Momekov, Niya Emilova Semerdzhieva, Stefka Аchkova Ivanova, Ventseslava Petrova Atanasova, Petar Yordanov Atanasov, Maria Stamova Vakrilova Becheva

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Papulonecrotic tuberculid-clinicopathologic and molecular features of 12 Indian patients by Rajalakshmi Tirumalae, Inchira K. Yeliur, Meryl Antony, Geojith George, John Kenneth

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Orofacial Granulomatosis among Pediatric Patients Well Controlled by Corticosteroid Treatment: A Rare Case Series by Taku Kimura, Ken-Ichiro Sakata, Shunichiro Takezaki, Takuya Asaka, Shohei Oshima, Aya Yanagawa-Matsuda, Yoshimasa Kitagawa

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A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement by Francesca Taroni, Valentina Capone, Alfredo Berrettini, Erika Adalgisa De Marco, Gian Antonio Manzoni, Giovanni Montini, Giovanni Montini

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Primary yolk sac tumor of the endometrium combined with situs inversus totalis: a case report and literature review by Rong Liu, Yanru Wang, Xinfeng Wang, Xiujie Chen, Jiangong Hu

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Diffuse intrapulmonary mesothelioma mimicking pulmonary lepidic adenocarcinoma: a rare case report and review of the literature by Wang RanYue, Wu ChunYan, Hou Likun, Zhang LiPing, Lin JieLu, Dong ZhengWei

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Laparoscopic Management of Mechanical Small Bowel Obstruction Secondary to Meckel's Diverticulum with a Double Basis. A Rare Anatomic Presentation by Aurora Mariani, Mohammed Siddiqui, Nicolas Boulard, Dominique Berrebi, Arnaud Bonnard

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Congenital solitary reticulohistiocytosis (Hashimoto - Pritzker) by Luciana Prates Nogueira de Lima, Carolina Viza Amorim, Rachel Martins Marinho, Maria Letícia Cintra, Elemir Macedo de Souza

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Escalpe lipedematoso com início precoce Lipedematous scalp with early onset by Roberto Rheingantz da Cunha Filho, Hiram Larangeira de Almeida Jr, André Cartell

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An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion by Ryan Colburn, David Lapidus

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Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management by Kelly A. Duffy, Kelly L. Trout, Jennifer M. Gunckle, Shari McCullen Krantz, John Morris, Jennifer M. Kalish, Jennifer M. Kalish

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NEU1-A Unique Therapeutic Target for Alzheimer's Disease by Aiza Khan, Consolato M. Sergi, Consolato M. Sergi

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Metabolic Effects of the Very-Low-Carbohydrate Diets: Misunderstood "Villains" of Human Metabolism by Manninen Anssi H

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Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio by Hao Gu, Zhenping Chen, Jie Ma, Jingyao Ma, Lingling Fu, Rui Zhang, Tianyou Wang, Runhui Wu

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SUCCESSFUL DIAGNOSIS OF PULMONARY ALVEOLAR MICROLITHIASIS BY A NEW MODALITY by admin pjmd, Ashok Kumar, Maria Malik, Mehroze Rehman, Waliya Badar Hossain, Rubaab Majida Mohammed, Nadeem Rizvi

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Necrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti - a case report by S. Kunzmann, T. Ngyuen, A. Stahl, J. M. Walz, M. M. Nentwich, C. P. Speer, K. Ruf

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Breast Desmoid Tumours: A Review of the Literature by Mike Wu, Thomas Michael Hughes, Senarath Edirimanne, Nicholas Ngui

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Mucopolysaccharidosis Type I in Mexico: Case-Based Review by Consuelo Cantú-Reyna, Diana Laura Vazquez-Cantu, Héctor Cruz-Camino, Yuriria Arlette Narváez-Díaz, Óscar Flores-Caloca, Óscar González-Llano, Carolina Araiza-Lozano, René Gómez-Gutiérrez

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An Unusual Iatrogenic Injury of Urinary Bladder Following Foley's Catheterization by Rumsha Sadaf, Marzia DabirKhan, Yasir Murtaza, Fariha Tariq, Anis Hussain

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