Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

Subjects: Get full text

A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media by Atsuko Yamaguchi, Núria Queralt-Rosinach

Subjects: Get full text

The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review by M C M Gomes, H L Malherbe

Subjects: “…rare diseases…”
Get full text

Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association by Jardelina Brena Rocha Leite, Nicole Ramalho De Freitas, Rafaella Nelice de Holanda Cardoso, Erik Trovão Diniz, Gabriel Rodrigues de Assis Ferreira, Fernão Henrique Costa e Alvim, Camila Ribeiro Coutinho Madruga, Ana Carolina Thé Garrido, Luciano Albuquerque, Patricia Sampaio Gadelha, Ruy Lyra, Lucio Vilar

Subjects: Get full text

Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease by Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk

Subjects: Get full text

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

Subjects: Get full text

Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology by Kota Ninomiya, Terue Takatsuki, Tatsuya Kushida, Yasunori Yamamoto, Soichi Ogishima

Subjects: Get full text

Human-based complex in vitro models: their promise and potential for rare disease therapeutics by Surat Parvatam, Francesca Pistollato, Lindsay J. Marshall, Fabia Furtmann, Devashree Jahagirdar, Mohua Chakraborty Choudhury, Sujata Mohanty, Harshita Mittal, Saveetha Meganathan, Rakesh Mishra

Subjects: “…rare diseases…”
Get full text

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

Subjects: “…Rare diseases…”
Get full text

Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics by Emmanuelle Cacoub, Emmanuelle Cacoub, Nathalie Barreto Lefebvre, Dimitrije Milunov, Manish Sarkar, Soham Saha

Subjects: “…rare diseases…”
Get full text

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…”
Get full text

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…”
Get full text

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

Subjects: Get full text

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…”
Get full text

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…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text