Search Results - "rare diseases"

Early identification of cardiac ATTR amyloidosis: a clinical case by A. A. Vedernikov, E. M. Mezhonov, N. Е. Shirokov, V. A. Balina, O. M. Reitblat, D. V. Teffenberg, S. V. Shalaev

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Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective by Michelle A. Farrar, Loudella Calotes-Castillo, Ranil De Silva, Peter Barclay, Lani Attwood, Julie Cini, Monica Ferrie, Didu S. Kariyawasam

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Drug Repurposing Using Modularity Clustering in Drug-Drug Similarity Networks Based on Drug-Gene Interactions by Vlad Groza, Mihai Udrescu, Alexandru Bozdog, Lucreţia Udrescu

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Hereditary kidney diseases associated with hypomagnesemia by Felix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto

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Kyrle's disease associated with HIV infection, diabetes, and chronic kidney disease by Geysa Maria Nogueira Farias, José Reginaldo Pinto, Juliana Carneiro Melo, Lara Gurgel Fernandes Távora, Danielle Malta Lima, Fernanda Judith Viana Correia, Geraldo Bezerra da Silva Júnior

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A novel approach with concomitant laparoscopic uterine artery ligation and D&C as initial treatment for complicated gestational trophoblast disease in cesarean scar and cervical ec... by Yu-Han Lin, Yu-Che Ou, Fu-Tsai Kung

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ANGIOSARCOMA OF THE HEART - CLINICAL CASE by N. Yu. Karpova, M. A. Rashid, T. V. Kazakova, N. S. Chipigina, A. V. Aksenova, R. V. Ershov, Zh. I. Banova, E. M. Levin, A. A. Byshov, B. V. Uvarovskaya

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Dental management of a child with a rare bone disorder: a case report with a six-year follow up by Suélen Alves TEIXEIRA, Mariana Oliveira GUIMARÃES, Natália Mendes De Matos CARDOSO, Raiane Machado MAIA, Natália Cristina Ruy CARNEIRO, Ana Cristina BORGES-OLIVEIRA

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Health-Related Quality of Life and Mental Health of Children with Embryonal Abdominal Tumors by Paulina Behrendt, Michael Boettcher, Kira Tabea Zierke, Safiullah Najem, Holger Zapf, Konrad Reinshagen, Wilhelm Wößmann, Johannes Boettcher

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Low rates of patient-reported outcome claims for orphan drugs approved by the us food and drug administration by Szymon Jarosławski, Pascal Auquier, Borislav Borissov, Claude Dussart, Mondher Toumi

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Síndrome stiff skin: relato de caso Stiff skin syndrome: case report by Adriana Gutstein da Fonseca Amorim, Marcia Kalil Aidé, Sandra Maria Barbosa Durães, Mayra Carrijo Rochael

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Progressive dyspnea and a right atrial mass in an 80-year-old man by Vera Demarchi Aiello, Ryan Yukimatsu Tanigawa, Rodrigo Caruso Chate, Fernando Peixoto Ferraz de Campos, Alfredo José Mansur

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Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists by Georgi Iskrov, Georgi Iskrov, Stefan Ivanov, Stephen Wrenn, Rumen Stefanov, Rumen Stefanov

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TRIANGLE ANALYSIS OF HEALTH INSURANCE PUBLIC POLICY: A CASE STUDY ON THE INFORMAL SECTOR IN INDONESIA by Haerawati Idris

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Lord of the fruit flies: an interview with Hugo Bellen by Hugo J. Bellen

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Diagnostic Error in Postpartum Choriocarcinoma: A case report by Leila Mousavi Seresh, Zohreh Yousefi, Amir Hosein Jafarian, Laya Shirinzadeh, Nooshin Babapour, Fereshteh Bazmi

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The Progress and Future of US Newborn Screening by Michael S. Watson, Michele A. Lloyd-Puryear, R. Rodney Howell

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Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis by Sasha Libbrecht, Francois Eyskens, Sabine Declercq, Cecile Colpaert

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A multidisciplinary clinic for Filipino patients with skeletal dysplasia: Opportunities and Challenges by Maria Melanie Liberty B Alcausin, Ebner Bon G Maceda, Gracia Cielo E Balce, Joycie Eulah H Abiera, Maria Glorian B Tomen

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Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age by Parini R, Pintos-Morell G, Hennermann JB, Hsu TR, Karabul N, Kalampoki V, Gurevich A, Ramaswami U

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