Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive att... by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

Subjects: “…Rare diseases…”
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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

Subjects: “…rare diseases…”
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The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide by M Dercksen, E H Conradie, C J Hendriksz, H Malherbe, B C Vorster

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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths by Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun

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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis by Judith Giroud-Gerbetant, Fernando Sotillo, Gonzalo Hernández, Irene Ruano, David Sebastián, Joana Fort, Mayka Sánchez, Günter Weiss, Neus Prats, Antonio Zorzano, Manuel Palacín, Susanna Bodoy

Subjects: “…Rare disease…”
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A collaborative network analysis for the interpretation of transcriptomics data in Huntington’s disease by Ozan Ozisik, Nazli Sila Kara, Tooba Abbassi-Daloii, Morgane Térézol, Elsa C. Kuijper, Núria Queralt-Rosinach, Annika Jacobsen, Osman Ugur Sezerman, Marco Roos, Chris T. Evelo, Anaïs Baudot, Friederike Ehrhart, Eleni Mina

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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases by Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi

Subjects: “…Rare disease…”
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Alström syndrome: the journey to diagnosis by Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot

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The parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson’s model: a qualitative study by Lin Mo, Fan-yan Du

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Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing by Jeong-Min Kim, Hye-Won Cho, Dong Mun Shin, Oc-Hee Kim, Jihyun Kim, Hyeji Lee, Gang-Hee Lee, Joon-Yong An, Misun Yang, Heui Seung Jo, Ja-Hyun Jang, Yun Sil Chang, Hyun-Young Park, Mi-Hyun Park

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The application of the facial analysis program Face2Gene in a single genetic counseling center: a retrospective study by Dinnar Yahya, Milena Stoyanova, Mari Hachmeriyan, Mariya Levkova

Subjects: “…Rare disease…”
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Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye by Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek

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A case report of comprehensive treatment for primary intraspinal carcinosarcoma by Chang Yan, Chao-Jun Zhang, Jun-bao Wei, Hui-wen Liang, Song Qu

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Drug repurposing screen for the rare disease ataxia-telangiectasia by Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer

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Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes by XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan

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Oral ATP treatment in alternating hemiplegia of childhood: a case report and review by Marco Carrozzi, Maria Elisa Morelli, Mario Cirino, Alessandra Maestro, Gilda Paternuosto, Giulia Benericetti, Giada Bennati, Maura Bin, Anna Flamigni, Federico Pigato, Natalia Maximova, Egidio Barbi, Egidio Barbi, Davide Zanon

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Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review by Ankita Umrao, Monika Pahuja, Nabendu Sekhar Chatterjee

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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

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A proposed conceptual model for orphan drug market entry by Nataša Jalen, Tina Vukasović

Subjects: “…marketing model, marketing strategy, rare disease, health technology assessment, orphan drug, grounded theory…”
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Relevance of superoxide dismutase type 1 to lipoid pneumonia: the first retrospective case-control study by Yinan Hu, Yanhong Ren, Yinzhen Han, Zhen Li, Weiqing Meng, Yuhui Qiang, Mengyuan Liu, Huaping Dai

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