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1دورية أكاديمية
المؤلفون: Huang, Yue, Grand, Katheryn, Kimonis, Virginia, Butler, Merlin G, Jain, Suparna, Huang, Alden Yen-Wen, Martinez-Agosto, Julian A, Nelson, Stanley F, Sanchez-Lara, Pedro A
المصدر: Journal of Medical Genetics. 59(7)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Obesity, Clinical Research, Human Genome, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Female, Humans, Chromosomes, Human, Pair 15, DNA, DNA Methylation, Genomic Imprinting, Mouth Mucosa, Prader-Willi Syndrome, snRNP Core Proteins, Polymorphism, Single Nucleotide, imprinting, point mutation, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2k99x00bTest
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2دورية أكاديمية
المؤلفون: Manichaikul, Ani, Hoffman, Eric A, Smolonska, Joanna, Gao, Wei, Cho, Michael H, Baumhauer, Heather, Budoff, Matthew, Austin, John HM, Washko, George R, Carr, J Jeffrey, Kaufman, Joel D, Pottinger, Tess, Powell, Charles A, Wijmenga, Cisca, Zanen, Pieter, Groen, Harry JM, Postma, Dirkje S, Wanner, Adam, Rouhani, Farshid N, Brantly, Mark L, Powell, Rhea, Smith, Benjamin M, Rabinowitz, Dan, Raffel, Leslie J, Stukovsky, Karen D Hinckley, Crapo, James D, Beaty, Terri H, Hokanson, John E, Silverman, Edwin K, Dupuis, Josée, O’Connor, George T, Boezen, H Marike, Rich, Stephen S, Barr, R Graham
المصدر: American Journal of Respiratory and Critical Care Medicine. 189(4)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Chronic Obstructive Pulmonary Disease, Human Genome, Emphysema, Lung, Genetics, Cardiovascular, Atherosclerosis, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Aged, Aged, 80 and over, Female, Follow-Up Studies, Genetic Markers, Genome-Wide Association Study, Genotyping Techniques, Humans, Male, Mannosidases, Middle Aged, N-Acetylglucosaminyltransferases, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Pulmonary Emphysema, RNA Helicases, Thiolester Hydrolases, Tomography, X-Ray Computed, United States, alpha-Mannosidase, snRNP Core Proteins, emphysema, computed tomography, multiethnic, cohort study, genetic association, Medical and Health Sciences, Respiratory System, Cardiovascular medicine and haematology, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/86b3m2mpTest
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3دورية أكاديمية
المؤلفون: Powell, Weston T, Coulson, Rochelle L, Gonzales, Michael L, Crary, Florence K, Wong, Spencer S, Adams, Sarrita, Ach, Robert A, Tsang, Peter, Yamada, Nazumi Alice, Yasui, Dag H, Chédin, Frédéric, LaSalle, Janine M
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 110(34)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Mental Health, Rare Diseases, Neurological, Angelman Syndrome, Animals, Chromatin, Chromatin Immunoprecipitation, Chromosomes, Human, Pair 15, Gene Expression Regulation, Gene Silencing, Genetic Loci, Genomic Imprinting, HEK293 Cells, Humans, Immunoblotting, In Situ Hybridization, Fluorescence, Locus Control Region, Mice, Mice, Knockout, Neurons, Prader-Willi Syndrome, RNA, Antisense, RNA, Small Nucleolar, Real-Time Polymerase Chain Reaction, Statistics, Nonparametric, Topotecan, Ubiquitin-Protein Ligases, snRNP Core Proteins, neurodevelopment, brain, HBII85, MBII85, snoRNA
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3sd2d51bTest
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4
المؤلفون: Bingbing, Chen, Zhenwei, Lan, Wendell Q, Sun, Qinghua, Cui, Wei, Si
المصدر: Cryobiology. 108:51-56
مصطلحات موضوعية: Cryopreservation, Glycerol, Male, Ethylene Glycol, Embryonic Development, General Medicine, DNA Methylation, Spermatozoa, snRNP Core Proteins, General Biochemistry, Genetics and Molecular Biology, Macaca fascicularis, Pregnancy, Semen, Fertilization, Sperm Motility, Animals, Female, General Agricultural and Biological Sciences, Semen Preservation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c3cd690ffbcae0d60b8179ac8412957Test
https://doi.org/10.1016/j.cryobiol.2022.07.004Test -
5دورية أكاديمية
المصدر: Human Molecular Genetics. 18(22)
مصطلحات موضوعية: Genetics, Mental Health, Congenital Structural Anomalies, Autism, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Pediatric, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Adult, Animals, Cell Nucleolus, Chromatin, Chromatin Assembly and Disassembly, Chromosomes, Mammalian, Genomic Imprinting, Humans, Male, Mice, Mice, Inbred C57BL, Middle Aged, Neurons, Prader-Willi Syndrome, RNA, Small Nucleolar, Ubiquitin-Protein Ligases, snRNP Core Proteins, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4pn7g9tfTest
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6
المؤلفون: Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand
المصدر: Human Mutation. 43:1567-1575
مصطلحات موضوعية: Chromosomes, Human, Pair 15, Genomic Imprinting, Genetics, Humans, Female, DNA Methylation, Uniparental Disomy, Prader-Willi Syndrome, Translocation, Genetic, snRNP Core Proteins, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47c95b47c88160753bf1f1a9bcb051dcTest
https://doi.org/10.1002/humu.24440Test -
7
المؤلفون: Simon Lafontaine, Marc‐André Sirard
المصدر: Molecular Reproduction and Development. 89:290-297
مصطلحات موضوعية: Tumor Suppressor Proteins, Cell Cycle Proteins, Cell Biology, DNA Methylation, snRNP Core Proteins, Genomic Imprinting, Oogenesis, KCNQ1 Potassium Channel, Genetics, Animals, Humans, Cattle, Transcription Factors, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183b27d6a8e342f576031c1b10bfa9ccTest
https://doi.org/10.1002/mrd.23621Test -
8دورية أكاديمية
المؤلفون: CHEN, LI, LULLO, DENNIS J, MA, ENBO, CELNIKER, SUSAN E, RIO, DONALD C, DOUDNA, JENNIFER A
المصدر: RNA. 11(10)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Amino Acid Sequence, Animals, Autoantigens, Base Sequence, Binding Sites, Cloning, Molecular, Drosophila, Gene Expression Profiling, Genetic Variation, Molecular Sequence Data, Nucleic Acid Conformation, Protein Isoforms, Protein Structure, Secondary, RNA Splicing, RNA, Small Nuclear, Ribonucleoproteins, Small Nuclear, Spliceosomes, snRNP Core Proteins, US snRNA, noncoding RNA, Biochemistry and Cell Biology, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8qc2n3ftTest
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9دورية أكاديمية
المؤلفون: Lorgen-Ritchie, Marlene, Murray, Alison D, Ferguson-Smith, Anne C, Richards, Marcus, Horgan, Graham W, Phillips, Louise H, Hoad, Gwen, Gall, Ishbel, Harrison, Kristina, McNeill, Geraldine, Ito, Mitsuteru, Haggarty, Paul
مصطلحات موضوعية: Adult, Aged, Brain, Chromosomes, Human, Pair 15, Pair 7, Cognition, Female, Follow-Up Studies, Genomic Imprinting, Humans, Male, Middle Aged, Proteins, snRNP Core Proteins
وصف الملف: Electronic-eCollection; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.39323Test
https://www.repository.cam.ac.uk/handle/1810/292172Test -
10
المؤلفون: Cong, Gao, Shuai, Lu, Rong, Zhou, Junjie, Ding, Jialiang, Fan, Binying, Han, Moxian, Chen, Baohua, Wang, Yunying, Cao
المصدر: BMC Genomics. 23
مصطلحات موضوعية: RNA, Small Nuclear, RNA Splicing, Spliceosomes, Genetics, Amino Acid Sequence, Ribonucleoprotein, U2 Small Nuclear, snRNP Core Proteins, Phylogeny, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d85cc919c7224145d8577bf4f50521d8Test
https://doi.org/10.1186/s12864-022-08956-0Test