المؤلفون: Hassan Chami, Samer Abou Arbid, Rebecca Badra, Chantal Farra

المصدر: Annals of Thoracic Medicine, Vol 12, Iss 4, Pp 290-293 (2017)

مصطلحات موضوعية: Atypical cystic fibrosis, conductance transmembrane regulatory gene, genetics, new mutation, normal chloride sweat test, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

العلاقة: http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=ChamiTest; https://doaj.org/toc/1817-1737Test; https://doaj.org/toc/1998-3557Test

الوصول الحر: https://doaj.org/article/1f377fe6c271476da108ac1dd8812454Test

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

المصدر: Reumatismo, Vol 71, Iss 2 (2019)

مصطلحات موضوعية: Familial Mediterranean fever, MEFV gene, new mutation, autoinflammatory disorders, Pyrin protein., Medicine, Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: https://www.reumatismo.org/index.php/reuma/article/view/1141Test; https://doaj.org/toc/0048-7449Test; https://doaj.org/toc/2240-2683Test

الوصول الحر: https://doaj.org/article/ba0cf6aea8b1407291b094e244ba9759Test

المؤلفون: Ben Fredj, D., Barro, C., Joly, P., Thomassin, N., Collardeau-Frachon, S., Plantaz, D., Adjaoud, D.

المساهمون: Laboratoire d'Hématologie, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB Université de Savoie Université de Chambéry ), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Arch. Pediatr. ; https://hal.science/hal-02466189Test ; Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩

مصطلحات موضوعية: Pediatrics, Hemolysis, Cholestasis, G6PD deficiency, g6pd mutations, Hyperbilirubinemia, Liver insufficiency, New mutation, [SDV]Life Sciences [q-bio]

العلاقة: hal-02466189; https://hal.science/hal-02466189Test; https://hal.science/hal-02466189/documentTest; https://hal.science/hal-02466189/file/S0929693X19300934.pdfTest; PII: S0929-693X(19)30093-4

الإتاحة: https://doi.org/10.1016/j.arcped.2019.05.005Test
https://hal.science/hal-02466189Test
https://hal.science/hal-02466189/documentTest
https://hal.science/hal-02466189/file/S0929693X19300934.pdfTest

المؤلفون: Jun Guo, Jing Yu, Yu Wang, Zhong-Jie Guo, Rong-Xiang Zhao, Fu Liu, Dan Ren

المصدر: World Journal of Clinical Cases

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lesions outside of the basal ganglia, medicine.diagnostic_test, business.industry, New mutation, Magnetic resonance imaging, macromolecular substances, General Medicine, Irreversible damage to the basal ganglia, Life-threatening symptoms, Basal ganglia, Case report, medicine, Severe β-ketothiolase deficiency, business, β ketothiolase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::167026651d69e49ab28aea4dda2dea5dTest
http://europepmc.org/articles/PMC8567524Test

المؤلفون: Dou Shuixiu, Jianping Xu, Jiafu Ou, Faping Cui

المصدر: Advanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, S syndrome, business.industry, echocardiography|marfan syndrome|fbn1 genes|new mutation, General Medicine, Gene mutation, cardiovascular system, Medical technology, Medicine, cardiovascular diseases, R855-855.5, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caaf87471c876035b6f2d64ae711c19bTest
http://www.journaladvancedultrasound.com:81/fileup/2576-2516/PDF/1630472707273-1791981006.pdfTest

المؤلفون: Turel, O, AYGUN, D, KARDAS, M, TORUN, EMEL, HERSHFIELD, M, CAMCıOGLU, Y

المساهمون: TÜREL, Özden

مصطلحات موضوعية: Turel O., AYGUN D., KARDAS M., TORUN E., HERSHFIELD M., CAMCıOGLU Y., A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.-, Pediatrics and neonatology, cilt.59, ss.97-99

الوقت: 2018

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/20.500.12645/6067Test; WOS:000434239600017; 85027395654

الإتاحة: https://doi.org/20.500.12645/6067Test
https://doi.org/10.1017/s0022215116009117Test
https://doi.org/10.1016/j.pedneo.2016.10.008Test
https://hdl.handle.net/20.500.12645/6067Test

المؤلفون: Carmen González Mao, Susana Romero Santos, Daisy Castiñeiras Ramos, Cristina Collazo Abal, Francisco Barros Angueira, Emilio C. Pazos Lago

المصدر: Advances in Laboratory Medicine, Vol 2, Iss 4, Pp 567-570 (2021)

مصطلحات موضوعية: business.industry, 030232 urology & nephrology, Medicine (miscellaneous), xanthine dehydrogenase gene, medicine.disease, xanthinuria, Education, 03 medical and health sciences, Medical Laboratory Technology, 0302 clinical medicine, hypouricemia, Xanthine dehydrogenase, Biochemistry, Xanthine Dehydrogenase Gene, 030220 oncology & carcinogenesis, New mutation, Medical technology, Medicine, Identification (biology), Xanthinuria, R855-855.5, Hypouricemia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec051192232672d3609aa9de714d0432Test
https://doi.org/10.1515/almed-2021-0018Test

المؤلفون: Wenyin Gong, Wei Li

المصدر: Mathematical Biosciences and Engineering, Vol 18, Iss 3, Pp 2425-2441 (2021)

مصطلحات موضوعية: Computer science, differential evolution, Applied Mathematics, quasi-reflection-based mutation, Evolutionary algorithm, search direction, General Medicine, numerical optimization, Computational Mathematics, Reflection (mathematics), Rate of convergence, Modeling and Simulation, Differential evolution, Mutation (genetic algorithm), New mutation, Benchmark (computing), Test suite, QA1-939, General Agricultural and Biological Sciences, Algorithm, TP248.13-248.65, Mathematics, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd63debe99f786421ec38420dc8e95bTest
http://www.aimspress.com/article/doi/10.3934/mbe.2021123?viewType=HTMLTest

المؤلفون: Rey, Laritza Martínez, Sánchez, Tatiana Acosta, Naranjo, Deynis Carmenate, Cuesta, Hector Vera

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Mucopolysaccharidosis, Sanfilippo syndrome, NAGLU, new mutation

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505Test

المؤلفون: Dawei Jiang, Hongli Du, Shuhua Li, Meiling Hu, Jerome R Lon, Wei Liu, Binbin Xi, Yuting Huang, Yuhuan Meng, Yimo Qu, Shudai Lin, Lizhen Huang, Yunmeng Bai

المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 1976-1985 (2021)
Computational and Structural Biotechnology Journal

مصطلحات موضوعية: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Biophysics, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Epidemic trends, Genetics, Key mutations, 030304 developmental biology, ComputingMethodologies_COMPUTERGRAPHICS, 0303 health sciences, SARS-CoV-2, Haplotype, Automated tool, Pathogenicity, Computer Science Applications, Candidate key, 030220 oncology & carcinogenesis, New mutation, Mutation (genetic algorithm), Key (cryptography), TP248.13-248.65, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22ad809cb934c122dd1cb5313719ea2Test
http://www.sciencedirect.com/science/article/pii/S2001037021001082Test