المؤلفون: Caio Perez Gomes, João Bosco Pesquero, André Macedo Serafim da Silva, Edmar Zanoteli

المصدر: Acta Neurologica Belgica. 120:705-707

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, MCARDLE DISEASE, business.industry, MEDLINE, General Medicine, 03 medical and health sciences, 0302 clinical medicine, New mutation, medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::458f810c95bbbfea1e7e05680230ab47Test
https://doi.org/10.1007/s13760-019-01159-7Test

المؤلفون: Carlos González Oller, Raimundo G. del Moral, Mercedes Caba Molina, M. Adoración Martín-Gómez, Coto Eliecer

المصدر: Nefrología (English Edition). 39:309-311

مصطلحات موضوعية: Adult, Genetics, Tamm–Horsfall protein, biology, business.industry, Hyperuricemia, Pedigree, HYPERURICAEMIC NEPHROPATHY, Nephrology, Mutation, Uromodulin, New mutation, biology.protein, Humans, Medicine, Female, Kidney Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73cb652ad6e859174848b6263d9c0fdTest
https://doi.org/10.1016/j.nefroe.2018.09.004Test

المؤلفون: Aida Bushati, Jera Kruja, Aferdita Tako, Anila Babameto

المصدر: Journal of the Neurological Sciences. 429:118273

مصطلحات موضوعية: Genetics, Neurology, business.industry, New mutation, Bethlem myopathy, Medicine, Neurology (clinical), business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::831a4702582763110a1e9e8e8838fcb9Test
https://doi.org/10.1016/j.jns.2021.118273Test

المؤلفون: Panpan Ding, Shuliang Zhou, Dongqing Feng

المصدر: Journal of Intelligent Systems, Vol 26, Iss 4, Pp 729-740 (2017)

مصطلحات موضوعية: improved algorithm, Bionics, Computer science, Science, Improved algorithm, 020206 networking & telecommunications, Self adaptive, 02 engineering and technology, QA75.5-76.95, new mutation strategy, self-adaptive, Artificial Intelligence, self-perturbing, global optimal solution, Electronic computers. Computer science, 0202 electrical engineering, electronic engineering, information engineering, 020201 artificial intelligence & image processing, bionics, abc, Algorithm, Software, Information Systems

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba05368da897b6791e48f9c468d8ccfeTest
https://doaj.org/article/f2e3eae26efb413ba8dd94cbb8223504Test

المؤلفون: Marta Arrudi-Moreno, Alba Fernández-Gómez, José Luis Peña-Segura

المصدر: Medicina Clínica. 156:94-95

مصطلحات موضوعية: Genetics, medicine.diagnostic_test, business.industry, Pontocerebellar hypoplasia, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Amino Acyl-tRNA Synthetases, Cerebellar diseases, Cerebellar Diseases, Mutation, Mutation (genetic algorithm), New mutation, medicine, Humans, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274da7a171953253038f1800da14500cTest
https://doi.org/10.1016/j.medcli.2019.10.005Test

المؤلفون: Diego Alvarez Ballano, Pablo Trincado Aznar, María Martínez García, María Elena López Alaminos, Karol Almendra Alvarado Rosas

المصدر: Endocrinología, Diabetes y Nutrición. 67:611-612

مصطلحات موضوعية: medicine.medical_specialty, Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, medicine.disease, Endocrinology, Text mining, Diabetes mellitus, Internal medicine, New mutation, medicine, business, Receptor, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe287b1cea4d30d61e810c2f82f8e53fTest
https://doi.org/10.1016/j.endinu.2019.11.008Test

المؤلفون: Miguel A. Durán-Olivencia, Serafim Kalliadasis

المساهمون: Ralph, T, Stephen, B, Scott, A, Engineering & Physical Science Research Council (EPSRC)

المصدر: Vaccines
Vaccines, Vol 9, Iss 735, p 735 (2021)

مصطلحات موضوعية: 0301 basic medicine, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Drug Discovery, Critical threshold, Development economics, Economics, medicine, Pharmacology (medical), Current wave, Coronavirus, Pharmacology, SARS-CoV-2, Communication, COVID-19, Quarter (United States coin), Vaccination, 030104 developmental biology, Infectious Diseases, Vaccination Campaigns, New mutation, SIR, Medicine, Business, Epidemic model, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7385de3888df635f5cd4bee92fa6d565Test
https://doi.org/10.3390/vaccines9070735Test

المؤلفون: Sofia Hadjieconomou, Jenny Hughes

المصدر: Pediatric Dermatology. 37:983-984

مصطلحات موضوعية: Male, Hemangioma, Cavernous, Central Nervous System, medicine.medical_specialty, Pathology, Neurology, Adolescent, Dermatology, Cerebral cavernous malformations, Asymptomatic, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Proto-Oncogene Proteins, medicine, Humans, Genetic Testing, Family history, Genetic testing, medicine.diagnostic_test, business.industry, Spinal cord, Magnetic Resonance Imaging, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, New mutation, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096af2074d571bf5778f63d926e75642Test
https://doi.org/10.1111/pde.14296Test

المؤلفون: Farjadian S., Bonatti F., Soriano A., Reina M., Adorni A., Graziano C., Moghtaderi M., Percesepe A., Romeo G., Martorana D.

المساهمون: Farjadian, S., Bonatti, F., Soriano, A., Reina, M., Adorni, A., Graziano, C., Moghtaderi, M., Percesepe, A., Romeo, G., Martorana, D.

مصطلحات موضوعية: autoinflammatory disorder, Familial Mediterranean fever, MEFV gene, new mutation, Pyrin protein

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000474642700006; volume:71; issue:2; firstpage:85; lastpage:87; numberofpages:3; journal:REUMATISMO; http://hdl.handle.net/11381/2868676Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069939798; https://www.reumatismo.org/index.php/reuma/article/download/1141/832Test

الإتاحة: https://doi.org/10.4081/reumatismo.2019.1141Test
http://hdl.handle.net/11381/2868676Test
https://www.reumatismo.org/index.php/reuma/article/download/1141/832Test

المؤلفون: Jara, Lilian, Ampuero Llanos, Sandra, Santibáñez, Eudocia, Seccia, Lorena, Rodríguez, Juan, Bustamante, Mario, Lay-Son, Guillermo, Ojeda, José Manuel, Reyes, José Miguel, Blanco, Rafael

المصدر: Biological Research

مصطلحات موضوعية: 4185delCAAG, BRCA1 gene, Chilean population, Frequent mutations, New mutation, Polymorphism

وصف الملف: application/pdf

العلاقة: Biological Research, Volumen 37, Issue 3, 2018, Pages 469-481; https://repositorio.uchile.cl/handle/2250/164964Test

الإتاحة: https://doi.org/10.4067/S0716-97602004000300011Test
https://repositorio.uchile.cl/handle/2250/164964Test