المؤلفون: Torner Blancafort, Carles

المساهمون: University/Department: Universitat de Barcelona. Facultat de Biologia

Thesis Advisors: Macías Hernández, María J., Martínez, Aurora, Palacín Prieto, Manuel

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Ciències de la salut, Ciencias biomédicas, Medical sciences, Embriologia, Embriología, Embryology, Càncer, Cáncer, Cancer, Malalties rares, Enfermedades raras, Rare diseases, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/692398

المؤلفون: Mateu Bosch, Anna

المساهمون: University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut

Thesis Advisors: Fillat i Fonts, Cristina

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Teràpia genètica, Terapia genética, Gene therapy, Metabolisme, Metabolismo, Metabolism, Malalties rares, Enfermedades raras, Rare diseases, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/693363

المؤلفون: Muñoz Pujol, Gerard

المساهمون: University/Department: Universitat de Barcelona. Facultat de Biologia

Thesis Advisors: Ribes, Antònia, Tort, Frederic, Zorzano Olarte, Antonio

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Genètica mèdica, Genética médica, Medical genetics, Bioquímica clínica, Clinical biochemistry, Malalties rares, Enfermedades raras, Rare diseases, Enginyeria genètica, Ingeniería genética, Genetic engineering, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/689592

المؤلفون: Núñez Carpintero, Iker

المساهمون: University/Department: Universitat de Barcelona. Departament de Bioquímica i Biomedicina Molecular

Thesis Advisors: Valencia Herrero, Alfonso, Cirillo, Davide, Gelpi Buchaca, Josep Lluís

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Ciències de la salut, Ciencias biomédicas, Medical sciences, Malalties rares, Enfermedades raras, Rare diseases, Aprenentatge automàtic, Aprendizaje automático, Machine learning, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/689597

المؤلفون: Sun, Tianyu¹ (AUTHOR) tianyu.sun@modernatx.com, Liao, Eileen¹ (AUTHOR), Shao, Nan¹ (AUTHOR), Luo, Junxiang¹ (AUTHOR)

المصدر: Journal of Biopharmaceutical Statistics. Oct2024, p1-13. 13p. 3 Illustrations.

مصطلحات موضوعية: *GOVERNMENT agencies, *SCARCITY, FALSE positive error, RARE diseases, SAMPLE size (Statistics)

المؤلفون: Pizzamiglio, Chiara, J. Stefanetti, Renae, McFarland, Robert, Thomas, Naomi, Ransley, George, Hugerth, Matilda, Grönberg, Alvar, Simon Serrano, Sonia, Elmer, Eskil, J. Hanna, Michael, Hansson, Magnus, S. Gorman, Gráinne, D. S. Pitceathly, Robert

المساهمون: Åsander Frostner, Eleonor, Creator

المصدر: Brain. 148(1):39-46

مصطلحات موضوعية: primary mitochondrial disease, rare diseases, clinical trial, phase I trial, KL1333, Medicin och hälsovetenskap, Medicinsk bioteknologi, Medical and Health Sciences, Medical Biotechnology, Hälsovetenskap, Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi, Health Sciences, Public Health, Global Health, Social Medicine and Epidemiology

URL الوصول: https://lup.lub.lu.se/record/a3d5a9d0-f825-4f32-998f-543d40f99a9c
http://dx.doi.org/10.1093/brain/awae308

المؤلفون: Baide Mairena, Heidy

Thesis Advisors: Pérez Dueñas, Belén, Moreno Galdó, Antonio

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Ganglis basals, Ganglios basales, Basal ganglia, Trastorns del moviment, Trastornos del movimiento, Movement disorders, Malalties rares, Enfermedades raras, Rare diseases, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/690099

المؤلفون: Fischer, Edgar G.¹ (AUTHOR) efischer@salud.unm.edu, Jones, Devin E.² (AUTHOR), Wu, Emily S.² (AUTHOR), Rutledge, Teresa L.² (AUTHOR)

المصدر: International Journal of Surgical Pathology. Feb2025, Vol. 33 Issue 1, p189-194. 6p.

مصطلحات موضوعية: *BLADDER, *RARE diseases, *DISEASE relapse, *INFLAMMATION, *MACROPHAGES, *ENDOMETRIUM

المؤلفون: Hernández-Rodríguez, José¹ (AUTHOR) jhernan@clinic.cat, Martínez-Valle, Fernando² (AUTHOR) fernando.martinez@vallhebron.cat, Acebes, Xènia³ (AUTHOR), Alerany, Carmen⁴ (AUTHOR), Antón, Jordi⁵ (AUTHOR), Calvo, Gonzalo⁶ (AUTHOR), Corral, Marian⁷ (AUTHOR), Cruz, Jordi^8,9 (AUTHOR), Mangues-Bafalluy, M. Antònia¹⁰ (AUTHOR), Mateo, José¹¹ (AUTHOR), Rivera, Josefa¹² (AUTHOR), Salazar, Albert¹³ (AUTHOR), Francisco, Roser¹⁴ (AUTHOR), Mallol, Cristina¹⁴ (AUTHOR), Reig-Viader, Rita¹⁴ (AUTHOR), Tigri-Santiña, Ariadna¹⁴ (AUTHOR), Ricart, Assumpta^14,15 (AUTHOR), Palau, Francesc^16,17,18 (AUTHOR) francesc.palau@sjd.es

المصدر: Orphanet Journal of Rare Diseases. 1/29/2025, p1-14. 14p.

مصطلحات موضوعية: *MEDICAL personnel, *RARE diseases, *TASK forces, *GENETIC disorder diagnosis, *CARE of people, *PATIENT advocacy

المؤلفون: Fitzsimmons, Lane^1,2 (AUTHOR), Acosta, Maria T. (AUTHOR), Adams, David R. (AUTHOR), Afzali, Ben (AUTHOR), Al-Beshri, Ali (AUTHOR), Allenspach, Eric (AUTHOR), Allworth, Aimee (AUTHOR), Alvarez, Raquel L. (AUTHOR), Alvey, Justin (AUTHOR), Andrews, Ashley (AUTHOR), Ashley, Euan A. (AUTHOR), Bacino, Carlos A. (AUTHOR), Bademci, Guney (AUTHOR), Balasubramanyam, Ashok (AUTHOR), Baldridge, Dustin (AUTHOR), Baldwin, Erin (AUTHOR), Bale, Jim (AUTHOR), Bamshad, Michael (AUTHOR), Barbouth, Deborah (AUTHOR), Bayrak-Toydemir, Pinar (AUTHOR)

المصدر: BioData Mining. 1/17/2025, Vol. 18 Issue 1, p1-16. 16p.

مصطلحات موضوعية: *PATIENTS' attitudes, *RARE diseases, *GENETIC variation, *PHENOTYPES, *SEIZURES (Medicine)

المؤلفون: Tan, Jia W.¹ (AUTHOR) tan.jia@mayo.edu, Blake, Emily J.¹ (AUTHOR), Farris, Joseph D.¹ (AUTHOR), Klee, Eric W.¹ (AUTHOR) klee.eric@mayo.edu

المصدر: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 1, p135. 12p.

مصطلحات موضوعية: *DNA methylation, *RARE diseases, *GENE expression, *METHYLATION, *DIAGNOSIS

المؤلفون: MV, Vijitha¹ (AUTHOR), MO, Nirmala² (AUTHOR), Vilanilam, George C³ (AUTHOR), L, Suja Raj⁴ (AUTHOR) ins@sctimst.ac.in

المصدر: Nursing & Midwifery Research Journal. Jan2025, Vol. 21 Issue 1, p61-68. 8p.

مصطلحات موضوعية: *HAMARTOMA, *RARE diseases, *BRAIN, *HYPOTHALAMUS tumors, *MAGNETIC resonance imaging, *CRANIOTOMY, *NURSING services administration, *SEIZURES (Medicine), *DRUG resistance, *ANTICONVULSANTS

المؤلفون: Hafiz Yusuf, Farah¹, Shaikh, Irfan¹, Hussain, Muntazir², Arif, Aabiya³, Rahim, Danish¹, Hafeez Siddiqui, Atif¹, Farrukh, Shuja¹, Saleem Tebha, Sameer⁴, Huma, Zil e¹

المصدر: ENT: Ear, Nose & Throat Journal. Jan2025, Vol. 104 Issue 1, p25-29. 5p.

مصطلحات موضوعية: *RARE diseases, *HOARSENESS, *RHABDOMYOSARCOMA, *DYSPNEA, *GERM cell tumors, *DEGLUTITION disorders, *MIDDLE age, LARYNGEAL tumors

المؤلفون: Wu, Yuping¹, Ding, Juanjuan¹ dingjuanjuan79@163.com

المصدر: Clinical Pediatrics. Jan2025, Vol. 64 Issue 1, p147-151. 5p.

مصطلحات موضوعية: *EARLY medical intervention, *RARE diseases, *BRONCHOPNEUMONIA, *HYPOKALEMIA, *ANOREXIA nervosa, *HYPOALDOSTERONISM, *EARLY diagnosis, *PENICILLIN, *CHROMATOGRAPHIC analysis, *ACIDOSIS, *DISEASE risk factors, *DISEASE complications

المؤلفون: Hennocq, Quentin^1,2,3 (AUTHOR) quentin.hennocq@aphp.fr, Lienhard, Olivier¹ (AUTHOR), Rao, Dipesh⁴ (AUTHOR), Amiel, Jeanne^1,5 (AUTHOR), Benichou, Ludovic⁶ (AUTHOR), Bongibault, Thomas^1,3 (AUTHOR), Hidalgo, Ana‐Julia Bravo^1,2 (AUTHOR), Cormier‐Daire, Valérie^1,5 (AUTHOR), Lyonnet, Stanislas^1,5 (AUTHOR), Picard, Arnaud² (AUTHOR), Rio, Marlène^1,5 (AUTHOR), Zaiter, Ahmed¹ (AUTHOR), Garcelon, Nicolas¹ (AUTHOR), Tkemaladze, Tinatin^7,8 (AUTHOR), Khonsari, Roman H.^1,2,3 (AUTHOR)

المصدر: Clinical Genetics. Dec2024, p1. 10p. 6 Illustrations.

مصطلحات موضوعية: *FEATURE extraction, *RARE diseases, *INDEPENDENT sets, *COFFINS, *GENOTYPES

المؤلفون: Bodden, Daniel¹ (AUTHOR) daniel.bodden@rwth-aachen.de, Schoenen, Stefanie¹ (AUTHOR) stschoenen@ukaachen.de, Wied, Stephanie¹ (AUTHOR) swied@ukaachen.de, Verbeeck, Johan² (AUTHOR) johan.verbeeck@uhasselt.be, Dirani, Maya^3,4 (AUTHOR) dr.mayadirani@gmail.com, Abou Daya, Hiba⁵ (AUTHOR) Hibaaboudaya@hotmail.com, Heussen, Nicole^1,6 (AUTHOR) nicole.heussen@med.sfu.ac.at, Molenberghs, Geert^2,7 (AUTHOR) geert.molenberghs@uhasselt.be, Hilgers, Ralf-Dieter¹ (AUTHOR) rhilgers@ukaachen.de, Nabbout, Rima^3,4 (AUTHOR) rima.nabbout@aphp.fr

المصدر: Orphanet Journal of Rare Diseases. 12/19/2024, Vol. 19 Issue 1, p1-11. 11p.

مصطلحات موضوعية: *HISTORY education, *RARE diseases, *EDUCATIONAL innovations, *CLINICAL trials, *MISSING data (Statistics)

المؤلفون: Domaradzki, Jan¹ jandomar@ump.edu.pl, Walkowiak, Dariusz²

المصدر: Journal of Religion & Health. Dec2024, Vol. 63 Issue 6, p4079-4109. 31p.

مصطلحات موضوعية: *RARE diseases, *RELIGION & medicine, *PARENT attitudes, *EMOTIONS, *BURDEN of care, *QUALITY of life, *RESEARCH, *SPIRITUAL care (Medical care)

مصطلحات جغرافية: POLAND

المؤلفون: Jauss, Robin-Tobias¹ (AUTHOR) Robin-Tobias.Jauss@medizin.uni-leipzig.de, Popp, Bernt^1,2 (AUTHOR), Bachmann, Joachim¹ (AUTHOR), Abou Jamra, Rami¹ (AUTHOR), Platzer, Konrad¹ (AUTHOR)

المصدر: Human Genetics. Dec2024, Vol. 143 Issue 12, p1459-1463. 5p.

مصطلحات موضوعية: *RARE diseases, *GENES, *LOGIC, *DATABASES

المؤلفون: Wiedmann, Lea A.¹ (AUTHOR) lea.wiedmann@lshtm.ac.uk, Cairns, John A.¹ (AUTHOR), Nolte, Ellen¹ (AUTHOR)

المصدر: Value in Health. Dec2024, Vol. 27 Issue 12, p1662-1670. 9p.

مصطلحات موضوعية: *RANDOMIZED controlled trials, *RARE diseases, *THERAPEUTICS, *TECHNOLOGY assessment

المؤلفون: Terashi, Eiko¹ eiko.t603@gmail.com, Suzuki, Tsugutoshi¹, Yoshida, Yoko¹, Fukudome, Keisuke¹, Nakamura, Yoshihide¹

المصدر: Pacing & Clinical Electrophysiology. Dec2024, Vol. 47 Issue 12, p1660-1669. 10p.

مصطلحات موضوعية: *CONGENITAL heart disease, *RARE diseases, *TREATMENT effectiveness, *RETROSPECTIVE studies, *ELECTROCARDIOGRAPHY, *CATHETER ablation, *TACHYCARDIA, *ATRIOVENTRICULAR node