Clinical, Radiological, and Molecular Findings in Cases with TRAPPopathies by Ayça Dilruba Aslanger, Esma Sengenç, Emrah Yücesan, Beyza Göncü, Akın İşcan, Gözde Yeşil Sayın

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Primary hyperparathyroidism due to a giant parathyroid adenoma presenting with pathological fractures and multiple brown tumors by Jassy Meng, Wedyan M Aboznadah, Marc Pusztaszeri, Vincent Larouche

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Population-based prevalence of rare diseases in Jeju, Korea: a 2021 analysis using NHIS data by Ki Soo Kang, Jung-Kook Song

Subjects: “…rare diseases…”
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Current Problems in Provision of Orphan Drugs and Ways to Solve Them by Alexei S. Kolbin, Roman A. Gapeshin, Stanislav M. Malyshev

Subjects: “…rare diseases…”
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Orphan drugs and the principles of their marketing authorization procedures and clinical use by A. A. Soldatov, Zh. I. Avdeeva, N. A. Alpatova, N. V. Medunitsyn, S. L. Lysikova

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Developing a standard dataset in the European registries for rare endocrine and bone conditions—a Melorheostosis dataset by Natasha M. Appelman-Dijkstra, Mariya Cherenko, Gavin P. R. Clunie, Thomas Funck-Brentano, Corinna Grasemann, Adalbert Raimann, Willem F. Lems, Martine Cohen-Solal

Subjects: “…Rare diseases…”
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Impact on the family of a child’s rare disease: A large cross-sectional study by Judith M. Jobling, Suzy M. Teutsch, Guy D. Eslick, Elizabeth J. Elliott

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The attitudes of medical students towards rare diseases: A cross-sectional study by Medić Branislava, Divac Nevena, Stopić Bojan, Savić-Vujović Katarina, Glišić Andreja, Cerovac Nataša, Stojanović Radan, Srebro Dragana, Prostran Milica

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Post-streptococcal myositis - ultrasound features of an under-recognised disorder: a case report by Benedict Grießmann, Kirsten de Groot

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Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants by John J Orrego, Joseph A Chorny

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Barraquer-Simons syndrome: literature review and case report by André Luiz de Araujo França, Luís Alberto de Souza Leite, Jeanine Maria Tejo Caminha, Carlos Lacerda de Andrade Almeida, Ênio Gomes de Araújo, Ernani Coelho Alencar, Rafael Neves de Souza, Jonathan Augusto Vidal de Oliveira, Pedro Flávio de Oliveira Batista

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Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China by GONG Mengchun, GUO Yanying, ZHENG Xihong, FAN Junkang, LIU Peng, NIU Ling, YANG Yining, ZOU Xiaoguang

Subjects: “…rare diseases…”
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Borderline ovarian tumors: a review of its biology, molecular profile, and management by Renata Colombo Bonadio, Ana Gabriela de Siqueira Santos, Maria Del Pilar Estevez-Diz

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NF- κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria by Jonathan Braue, Vagishwari Murugesan, Steven Holland, Nishit Patel, Eknath Naik, Jennifer Leiding, Abraham Tareq Yacoub, Carlos N Prieto-Granada, John Norman Greene

Subjects: “…Immunodeficiency, NEMO, rare diseases, mycobacterial Infections…”
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‘Un-thirsty’ hypernatremia by Markus Koster, Katrin Ledergerber, Michael Brändle

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Primary umbilical endometriosis: excision and neo-omphaloplasty by Roberto Luiz Sodré, Sérgio Toshio Yamamoto, Leonardo Gabeira Secco, Tenílson Amaral Oliveira, Corintio Mariani Neto

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Reframing risks in rare diseases: economics of networks, spillovers, and scale by Carlisle Ford Runge, James Campbell, Carlisle P. Runge

Subjects: “…rare diseases…”
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Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study by Pietro Francesco Bica, Caterina Matucci-Cerinic, Elvis Hysa, Andrea Cere, Silvia Rosina, Stefano Volpi, Roberta Caorsi, Alberto Sulli, Sabrina Paolino, Vanessa Smith, Maurizio Cutolo, Marco Gattorno

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Genitourinary melanoma: An overview for the clinician by Danielle K. DePalo, Kelly M. Elleson, Michael J. Carr, Philippe E. Spiess, Jonathan S. Zager

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The cost of the diagnostic odyssey of patients with suspected rare diseases by Rick Glaubitz, Luise Heinrich, Falko Tesch, Martin Seifert, Katrin Christiane Reber, Ursula Marschall, Jochen Schmitt, Gabriele Müller

Subjects: “…Rare diseases…”
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