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1دورية أكاديمية
المؤلفون: Imen Habibi, Yousra Falfoul, Ahmed Turki, A. Hassairi, Khaled El Matri, Ahmed Chebil, Daniel F. Schorderet, L. El Matri
مصطلحات موضوعية: Molecular Mechanisms of Retinal Degeneration and Regeneration, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Melanin Pigmentation in Mammalian Skin, Cell Biology, Age-Related Macular Degeneration Research, Ophthalmology, Medicine, Health Sciences, Photoreceptor Degeneration, Genetics, FOS Biological sciences, Retinitis pigmentosa, Biology, ABCA4, Exome sequencing, Missense mutation, Disease gene identification, Usher syndrome, Nonsense, Allele, Phenotype, Exome, Genotype, Genetic heterogeneity, Nonsense mutation, Population, Allelic heterogeneity, Gene
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المؤلفون: Jiahui Wang, Mingyang Lu, Mingsheng Zhang, Haitham Ashoor, Ryan Musich, Chao Zhang, Sheng Li, Xiaowen Chen
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reportsمصطلحات موضوعية: Epigenomics, 2019-20 coronavirus outbreak, Tumour heterogeneity, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Science, Population, Computational biology, Biology, Article, Epigenesis, Genetic, Bioconductor, Genetic Heterogeneity, Neoplasms, Tumor Microenvironment, Humans, Gene Regulatory Networks, Epigenetics, education, education.field_of_study, Polymorphism, Genetic, Multidisciplinary, Gene Expression Profiling, Computational Biology, Myeloid leukemia, Gene Expression Regulation, Neoplastic, Medicine, Allelic heterogeneity, Software, Biological network
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee56d8a575e95419990b3003364b77afTest
https://doaj.org/article/1a0da502471b4ef1aa309738a04bf2beTest -
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المؤلفون: Anna V. Abrukova, N. V. Balinova, Nika V. Petrova, F. A. Konovalov, Rena A. Zinchenko, Andrey V. Marakhonov, Sergey I. Kutsev
المصدر: Genes, Vol 12, Iss 820, p 820 (2021)
Genes; Volume 12; Issue 6; Pages: 820مصطلحات موضوعية: 0301 basic medicine, Hearing loss, Population, Locus (genetics), Biology, QH426-470, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, deafness, medicine, otorhinolaryngologic diseases, Genetics, 030223 otorhinolaryngology, education, Genotyping, Genetics (clinical), Exome sequencing, hearing loss, Sanger sequencing, education.field_of_study, Chuvash population, population frequency, medicine.disease, “bottle neck” effect, GIPC3, 030104 developmental biology, symbols, Allelic heterogeneity, Sensorineural hearing loss, medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::468ea5a87a5ab7ad29dce8c817e15fc4Test
https://www.mdpi.com/2073-4425/12/6/820Test -
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المؤلفون: Pádraic J. Flood, John K. McKay, J. Grey Monroe, Detlef Weigel
المصدر: Heredity, vol 126, iss 3
Heredity
Heredity, 126(3), 383-395
Heredity 126 (2021) 3مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Population genetics, Population, Evolutionary biology, Locus (genetics), Review Article, Biology, 01 natural sciences, Basic Behavioral and Social Science, Population genomics, 03 medical and health sciences, Behavioral and Social Science, Genetics, Life Science, Allele, Evolutionary dynamics, education, Genetics (clinical), Loss function, education.field_of_study, Evolutionary Biology, Prevention, Human Genome, Rare variants, Genomics, Biological Evolution, Genome evolution, Plant Breeding, Genetics, Population, 030104 developmental biology, Phenotype, Molecular evolution, Allelic heterogeneity, Metagenomics, Generic health relevance, 010606 plant biology & botany, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c89aa7be9c7ba9a1b2cc8031e343291Test
https://escholarship.org/uc/item/76f6b8mgTest -
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المؤلفون: Joni A. Turunen, Perttu J. Liuska, Tero Kivelä, Mika Harju
المصدر: Acta Ophthalmologica. 99
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Population, Glaucoma, Genomics, Biology, Global Health, 03 medical and health sciences, 0302 clinical medicine, Prevalence, medicine, Humans, Missense mutation, Clinical significance, Eye Proteins, education, Myocilin, Glycoproteins, Genetics, education.field_of_study, DNA, General Medicine, medicine.disease, eye diseases, 3. Good health, Cytoskeletal Proteins, Ophthalmology, Gene Expression Regulation, Population Surveillance, 030221 ophthalmology & optometry, Medical genetics, Allelic heterogeneity, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63113b9283a8c6a8280803ef4b1d5d7Test
https://doi.org/10.1111/aos.14738Test -
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المؤلفون: Susan J. Monkley, Daniel Muthas, Andrew R. Harper, Dimitrios Vitsios, Quanli Wang, Slavé Petrovski, Keren J Carss, Sri V V Deevi, Henric Olsson, Ruth March, Katherine R. Smith, Sebastian Wasilewski, AstraZeneca Genomics Initiative, Alex L. MacKay, Adam Platt, Abhishek Nag, Ioanna Tachmazidou, Carolina Haefliger, Michael Huhn, Ryan S. Dhindsa
مصطلحات موضوعية: education.field_of_study, Population, Context (language use), Allelic heterogeneity, Computational biology, Phenome, Biology, education, Biobank, Genotyping, Exome sequencing, Genetic architecture
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5bc8e2d3918b45d946c8eb9be4d0e1f6Test
https://doi.org/10.1101/2020.12.13.422582Test -
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المؤلفون: Pipis, Menelaos, Feely, Shawna ME, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M, Inherited Neuropathies Consortium-Rare Disease Clinical Research Network (INC-RDCRN)
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Brain
مصطلحات موضوعية: 0301 basic medicine, standardized response mean, Male, Longitudinal study, Charcot-Marie-Tooth disease type 2A, genotype-phenotype correlations, Disease, GTP Phosphohydrolases, Cohort Studies, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Longitudinal Studies, Prospective Studies, Age of Onset, Prospective cohort study, Child, Genes, Dominant, Neurologic Examination, education.field_of_study, Predictive marker, AcademicSubjects/SCI01870, Charcot-Marie-Tooth Examination Score v2.0, Prognosis, Natural history, Child, Preschool, Cohort, Disease Progression, Allelic heterogeneity, Female, Adult, Genetic Markers, medicine.medical_specialty, Orthotic Devices, Adolescent, Population, Genes, Recessive, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, education, Genetic Association Studies, business.industry, Infant, Original Articles, mitofusin-2, 030104 developmental biology, Wheelchairs, AcademicSubjects/MED00310, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf91260bc45bb4c10d775b4f4198147bTest
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مصطلحات موضوعية: Genetic Processes, education.field_of_study, biology, Metabolite, Population, Locus (genetics), biology.organism_classification, chemistry.chemical_compound, chemistry, Arabidopsis, Genetic variation, Allelic heterogeneity, education, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7f1789c712d570bce7a1f9b7ee0adc3dTest
https://doi.org/10.1101/2020.09.23.310268Test -
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المؤلفون: Aaron J. Stern, Leo Speidel, Rasmus Nielsen, Noah Zaitlen
مصطلحات موضوعية: Genetics, Negative selection, education.field_of_study, Directional selection, Polygene, Population, Trait, Allelic heterogeneity, Genome-wide association study, Biology, education, Genetic correlation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2139618638736bd725e9f2c66d687f3aTest
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المؤلفون: Barbara Wallner, Gabriella Lindgren, Gottfried Brem, Brandon D. Velie, Stefan Rieder, Hubert Pausch, Simone Reiter, Thomas Druml, Gertrud Grilz-Seger, Matjaz Mesarič, Michaela Horna, Tosso Leeb, Markus Cotman, Markus Neuditschko, Vidhya Jagannathan
مصطلحات موضوعية: Coat, SPOTTING PATTERN, KIT GENE, VARIANT, Locus (genetics), Genome-wide association study, Single-nucleotide polymorphism, Biology, Horse, Coat color, Polymorphism, Single Nucleotide, MC1R, Animals, GWAS, Horses, Veterinary Sciences, Hair Color, Genetic marker, MUTATION, Alleles, POPULATION, Genetic association, Genetics, Science & Technology, 630 Agriculture, Equine, KIT, Roan, POLYMORPHISM, Phenotype, 570 Life sciences, biology, 590 Animals (Zoology), Allelic heterogeneity, WHITE, Gene pool, Gray (horse), Life Sciences & Biomedicine, Genome-Wide Association Study
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5032af5f14e8d7a4f395eb563208671fTest
https://lirias.kuleuven.be/handle/123456789/666303Test