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المؤلفون: Emine Kartal Baykan, Ceren Alavanda, Erdal Kurnaz, Pinar Ata, Oguzhan Yarali, Ayberk Turkyilmaz, Atilla Cayir, Dilek Gogas Yavuz
المصدر: Metabolic Syndrome and Related Disorders. 19:340-346
مصطلحات موضوعية: Adult, medicine.medical_specialty, Turkey, Endocrinology, Diabetes and Metabolism, Familial hypercholesterolemia, Cohort Studies, Hyperlipoproteinemia Type II, symbols.namesake, Internal medicine, Internal Medicine, Humans, Medicine, Child, Lipoprotein cholesterol, Heterogeneous group, business.industry, medicine.disease, Endocrinology, Receptors, LDL, Mutation, Cohort, LDL receptor, Mendelian inheritance, symbols, lipids (amino acids, peptides, and proteins), Genotype to phenotype, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917e09b90c2cae45765ca6925d4185d8Test
https://doi.org/10.1089/met.2021.0004Test -
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المؤلفون: Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Martje G. Pauly, Kathrin Grundmann-Hauser, Frauke Hinrichs
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Leukoencephalopathy, Pathology, medicine.medical_specialty, Neurology, business.industry, Hereditary spastic paraplegia, medicine, Neurology (clinical), business, medicine.disease, Compound heterozygosity, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d6d166dc5930ca21b068f4bd0b0525Test
https://doi.org/10.1002/mdc3.13258Test -
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المؤلفون: Arata Horii, Aiko Isami, Hironori Baba, Masahiro Uemura, Takeshi Ikeuchi, Osamu Onodera, Tomone Taneda, Yo Higuchi, Takuya Konno, Masato Kanazawa
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: NEURONAL INTRANUCLEAR INCLUSION DISEASE, Neurology, Voice tremor, business.industry, Medicine, Neurology (clinical), business, Neuroscience, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb1035f9a365232bea21618ceefa7a2Test
https://doi.org/10.1002/mdc3.13382Test -
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المؤلفون: Altino Choupina, Iuliia Branco
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: Bioinformatics, Computer science, Biological data mining, Genomics, Applied Microbiology and Biotechnology, Tools, 03 medical and health sciences, Data Mining, Sequencing, Precision Medicine, 030304 developmental biology, 0303 health sciences, Genome, 030306 microbiology, business.industry, Scale (chemistry), Computational Biology, General Medicine, Personalized medicine, Life science, ComputingMethodologies_PATTERNRECOGNITION, Applications, Identification (biology), Genotype to phenotype, business, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::108b8f9801fd72237449680a127d586aTest
https://doi.org/10.1007/s00253-020-11056-2Test -
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المؤلفون: Marcelo Mendonça, Raquel Barbosa, Tânia Lampreia, Paulo André Dias Bastos, Marta Magriço, Jorge Oliveira
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, business.industry, PHARC syndrome, Genetic disorder, medicine.disease, Letters: Genotype and Phenotype, Neurology, Medicine, Deaf blindness, Neurology (clinical), medicine.symptom, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5dbca355c4f7bbac06763f2f1a1299cTest
https://doi.org/10.1002/mdc3.13266Test -
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المؤلفون: Kailash P. Bhatia, Anna Latorre, Victoria Ros-Castelló, Juan Carlos Martínez-Castrillo, Juan Álvarez-Linera, Isabel Pareés
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Dystonia, Fragile X syndrome, medicine.medical_specialty, Fragile x, Endocrinology, Neurology, business.industry, Internal medicine, medicine, Neurology (clinical), medicine.disease, business, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a88a9863156bd838fe6bbeaff564428Test
https://doi.org/10.1002/mdc3.13234Test -
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المؤلفون: Qiang Li, Jia Wang, Huang-Tian Yang, Nan Cao, Qiang Wu
المصدر: Stem Cells Translational Medicine, Vol 9, Iss 10, Pp 1121-1128 (2020)
Stem Cells Translational Medicineمصطلحات موضوعية: 0301 basic medicine, Heart Diseases, Heart disease, cardiac, Cell Culture Techniques, tissue regeneration, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Cell transplantation, CARDIAC THERAPY, medicine, Humans, Regeneration, Myocytes, Cardiac, lcsh:QH573-671, Induced pluripotent stem cell, cell transplantation, Embryonic Stem Cells, lcsh:R5-920, business.industry, lcsh:Cytology, Cell Differentiation, Cell Biology, General Medicine, differentiation, medicine.disease, 030104 developmental biology, embryonic stem cells (ESCs), induced pluripotent stem cells (iPSCs), Genotype to phenotype, pluripotent stem cells, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Perspectives, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa069eb6b843c90eca8080c71ee5c33Test
https://doaj.org/article/399f16533570466b9a088a0a4c52816cTest -
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المؤلفون: Marjolein Bruijning, Ian F. Miller, Justin Lessler, Konstans Wells, Benjamin L. Rice, Robin N Thompson, Emma E. Glennon, C. Jessica E. Metcalf
المساهمون: Glennon, Emma [0000-0001-9540-1998], Apollo - University of Cambridge Repository
المصدر: Epidemics, Vol 37, Iss, Pp 100516-(2021)
مصطلحات موضوعية: Epidemiology, Computer science, Big data, Infectious and parasitic diseases, RC109-216, computer.software_genre, Microbiology, Disease Outbreaks, QA76, Health system functioning, Virology, Pandemic, QA, Pandemics, Fundamental theory, Estimation, Data collection, business.industry, QH, Public Health, Environmental and Occupational Health, Immune landscape, Data interpretation, Models, Theoretical, Genotype to phenotype map, Infectious Diseases, Knowledge base, Risk analysis (engineering), Data integration, Parasitology, business, computer, Forecasting
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3bcba215b91a33d97fff5519fa43e5fTest
http://wrap.warwick.ac.uk/160261/1/WRAP-challenges-modeling-emergence-novel-pathogens-Thompson-2021.pdfTest -
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المؤلفون: Filippo Manti, Vincenzo Leuzzi, Celeste Panteghini, Barbara Garavaglia
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: long-term outcome, Pediatrics, medicine.medical_specialty, business.industry, WDR45, Parkinsonism, Neurodevelopmental disorders, parkinsonism, Late onset, medicine.disease, Letters: Genotype and Phenotype, Neurodevelopmental disorder, Neurology, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91400c0c11d190e92083c918fbfde76Test
https://europepmc.org/articles/PMC8721834Test/ -
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المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, biology, business.industry, Parkinsonism, medicine.disease, Letters: Genotype and Phenotype, Endocrinology, Neurology, Internal medicine, medicine, biology.protein, Dat scan, Neurology (clinical), business, Dopamine transporter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844e67e044b951fe964e399a2c21b634Test
https://doi.org/10.1002/mdc3.13140Test