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101
المؤلفون: Bongani M. Mayosi, Andrzej Okreglicki, Neil Hendricks
المصدر: SA Heart Journal, Vol 5, Iss 4, Pp 148-154 (2017)
مصطلحات موضوعية: arrhythmogenic right ventricular cardiomyopathy, south africa, medicine.medical_specialty, business.industry, Aerospace Engineering, Status report, Sudden death, Right ventricular cardiomyopathy, Internal medicine, Tissue bank, RC666-701, New mutation, Epidemiology, Cardiology, Medicine, Diseases of the circulatory (Cardiovascular) system, business, Risk assessment, Pathological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af702888c85ef67094e7a8a404a2d5fTest
https://www.journals.ac.za/index.php/SAHJ/article/view/2018Test -
102
المؤلفون: Stephen O. Brennan, Darrell Wang, Campbell R. Sheen, Mark Horridge
المصدر: Hemoglobin. 41:140-143
مصطلحات موضوعية: Adult, Lysis, Protein Stability, Chemistry, Hemoglobins, Abnormal, Protein subunit, Biochemistry (medical), Clinical Biochemistry, Hematology, Molecular biology, Phenotype, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation, New mutation, Humans, Female, Hb Amsterdam, Hemoglobin, Gene, Genetics (clinical), 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bbe307f4d1f97bc81cc34ea015a2d60Test
https://doi.org/10.1080/03630269.2017.1311911Test -
103
المؤلفون: Juana Pelegrín Díaz, Lorenzo Montserrat Iglesias, Ariadna Ayerza Casas, Esther Aurensanz Clemente, Cecilia García Lasheras, Feliciano Jesús Ramos Fuentes, Inés Bueno Martínez, Pablo Ruiz Frontera
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Genetics, Familial Hypertrophic Cardiomyopathy, business.industry, Hypertrophic cardiomyopathy, myosin‐binding protein C, Case Report, Case Reports, General Medicine, Disease, 030204 cardiovascular system & hematology, hypertrophic cardiomyopathy, medicine.disease, 03 medical and health sciences, MYH7, 030104 developmental biology, 0302 clinical medicine, Myosin-binding protein C, New mutation, Medicine, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c804ae18eccc8af82b059e067e42b4fTest
https://doi.org/10.1002/ccr3.832Test -
104
المؤلفون: Christian R. Andres, Patrick Vourc'h, Arnaud Lacour, Stéphane Beltran, Philippe Couratier, Hélène Blasco, Philippe Corcia, Veronique Danel
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 18:298-301
مصطلحات موضوعية: Adult, Models, Molecular, 0301 basic medicine, Neural Conduction, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Juvenile, Amino Acid Sequence, Amyotrophic lateral sclerosis, Gene, Genetics, Amyotrophic Lateral Sclerosis, C-Terminal Amino Acid, medicine.disease, 030104 developmental biology, Neurology, Mutation, New mutation, Disease Progression, RNA-Binding Protein FUS, Female, Bulbar onset, Neurology (clinical), Respiratory Insufficiency, Novel mutation, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a76ec78625ced39bc203072eb69e28Test
https://doi.org/10.1080/21678421.2016.1265564Test -
105
المؤلفون: Mohammad Ahmadvand, M. Norouzinia, Y. Shafaqati, M. Mashhadikhan
المصدر: Sarem Journal of Reproductive Medicine. 2:13-18
مصطلحات موضوعية: Genetics, business.industry, New mutation, X-Linked Congenital Nystagmus, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6f21c3806cbef64ea8e284520af54cdbTest
https://doi.org/10.29252/sjrm.2.1.13Test -
106
المؤلفون: Kostas Metaxiotis, Konstantinos Liagkouras
المصدر: Annals of Operations Research. 267:281-319
مصطلحات موضوعية: Mathematical optimization, 021103 operations research, MathematicsofComputing_NUMERICALANALYSIS, 0211 other engineering and technologies, Evolutionary algorithm, Constrained optimization, General Decision Sciences, 02 engineering and technology, Management Science and Operations Research, Solver, ComputingMethodologies_ARTIFICIALINTELLIGENCE, Multi-objective optimization, New mutation, Theory of computation, 0202 electrical engineering, electronic engineering, information engineering, 020201 artificial intelligence & image processing, Portfolio optimization problem, Portfolio optimization, Algorithm, Mathematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59cb310207ac78bb991c2ab0c34ee9dcTest
https://doi.org/10.1007/s10479-016-2377-zTest -
107
المؤلفون: Ana Peña Cabia, Enrique Prada de Medio, Sandra Serrano Martínez, Mubarack Alramadan, Ana María Cerezo Arillo, María Luisa Giménez Alarcón
المصدر: Revista del Laboratorio Clínico. 9:173-176
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Thyroid, Genetic disorder, 030209 endocrinology & metabolism, medicine.disease, Thyroid hormone receptor beta, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Free thyroxin, Internal medicine, New mutation, medicine, 030212 general & internal medicine, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bee7197665e0e5e3763170b1ac6db07Test
https://doi.org/10.1016/j.labcli.2016.06.001Test -
108
المؤلفون: Haixiang Guo, Yanan Li, Bing Gong, Wenwen Pan, Shaoning Pang, Xiao Liu, Yijing Li
المصدر: Soft Computing. 21:5939-5974
مصطلحات موضوعية: 0209 industrial biotechnology, Mathematical optimization, Mechanism (biology), Computer science, Niche, Computational intelligence, 02 engineering and technology, Theoretical Computer Science, 020901 industrial engineering & automation, Rate of convergence, Differential evolution, New mutation, Mutation (genetic algorithm), 0202 electrical engineering, electronic engineering, information engineering, Clearing, 020201 artificial intelligence & image processing, Geometry and Topology, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4e82edb83029c2acf2bca5ef381f647fTest
https://doi.org/10.1007/s00500-016-2318-4Test -
109
المؤلفون: J.T. López Alburquerque, F.J. Domínguez Díez
المصدر: Neurología (English Edition). 34:546-547
مصطلحات موضوعية: Tooth disease, business.industry, Mutation (genetic algorithm), New mutation, Medicine, Bioinformatics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e7a6fda848d8e230d257d128095c62e9Test
https://doi.org/10.1016/j.nrleng.2017.01.007Test -
110
المؤلفون: Maria Reis Andrade, Catarina Dantas Rodrigues, Celeste Bento, Paula Rocha, Gisela Ferreira, Conceição Constanço, Helena Matos Silva, João Barradas
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Congenital erythrocytosis, Case Report, phd2, Case Reports, 03 medical and health sciences, 0302 clinical medicine, medicine, Gene, thrombosis, EGLN1 Gene, Red Cell, hypoxia, business.industry, General Medicine, Hypoxia (medical), medicine.disease, Thrombosis, 030104 developmental biology, New mutation, Mutation (genetic algorithm), Cancer research, medicine.symptom, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb56ded1adef7e99c8f1b268c4aa17cTest
https://doi.org/10.1002/ccr3.1499Test