المؤلفون: Kumar, Ravinesh A, Marshall, Christian R, Badner, Judith A, Babatz, Timothy D, Mukamel, Zohar, Aldinger, Kimberly A, Sudi, Jyotsna, Brune, Camille W, Goh, Gerald, Karamohamed, Samer, Sutcliffe, James S, Cook, Edwin H, Geschwind, Daniel H, Dobyns, William B, Scherer, Stephen W, Christian, Susan L

المصدر: PloS one. 4(2)

مصطلحات موضوعية: Chromosomes, Human, Pair 16, Animals, Humans, Mice, Genetic Predisposition to Disease, Membrane Proteins, DNA Mutational Analysis, Autistic Disorder, Exons, Family Health, Embryo, Mammalian, Promoter Regions, Genetic, Genetic Variation, Chromosomes, Human, Pair 16, Embryo, Mammalian, Promoter Regions, Genetic, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4fd6g460Test

المؤلفون: Šedová, Lucie, Pravenec, Michal, Křenová, Drahomíra, Kazdová, Ludmila, Zídek, Václav, Krupková, Michaela, Liška, František, Křen, Vladimír, Šeda, Ondřej

المصدر: PLoS ONE, Vol 11, Iss 3, p e0152708 (2016)
PLoS ONE

مصطلحات موضوعية: Male, Quantitative Trait Loci, lcsh:Medicine, Blood Pressure, Research and Analysis Methods, Vascular Medicine, Biochemistry, Database and Informatics Methods, Endocrinology, Animals, Congenic, Rats, Inbred BN, Rats, Inbred SHR, Medicine and Health Sciences, Genetics, Insulin, Animals, Humans, lcsh:Science, Diabetic Endocrinology, Metabolic Syndrome, Genome, lcsh:R, Hemodynamics, Biology and Life Sciences, Computational Biology, Genomics, Glucose Tolerance Test, Genomic Databases, Genome Analysis, Lipids, Hormones, Biological Databases, Cholesterol, Genetic Loci, Metabolic Disorders, Hypertension, Metabolome, lcsh:Q, Chromosomes, Human, Pair 16, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::92fdee127a10e93bdf539fb465d9ea44Test
http://europepmc.org/articles/PMC4816345?pdf=renderTest

المؤلفون: Derek L. Stirewalt, Cu Nguyen, Daoud Meerzaman, Shawn Levy, Fabiana Ostronoff, Soheil Meshinchi, Ying Hu, Chih Hao Hsu, Chunhua Yan, George Komatsoulis, Rhonda E. Ries, Qing Rong Chen

المصدر: PLoS ONE, Vol 10, Iss 9, p e0138782 (2015)
PLoS ONE

مصطلحات موضوعية: Chromosomes, Human, Pair 21, Sequence analysis, lcsh:Medicine, Biology, Core binding factor, Core Binding Factor beta Subunit, Translocation, Genetic, Transcriptome, Humans, Gene family, Gene Regulatory Networks, Myeloid Ecotropic Viral Integration Site 1 Protein, Hox gene, lcsh:Science, Gene, Homeodomain Proteins, Genetics, Principal Component Analysis, Binding Sites, Multidisciplinary, Sequence Analysis, RNA, Gene Expression Profiling, lcsh:R, Core Binding Factor alpha Subunits, Acetylation, Neoplasm Proteins, 3. Good health, Gene expression profiling, Alternative Splicing, Leukemia, Myeloid, Acute, Karyotyping, Chromosome Inversion, Core Binding Factor Alpha 2 Subunit, Homeobox, lcsh:Q, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8, Protein Binding, Transcription Factors, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2912f7626edac75288f14b35825a705Test
http://europepmc.org/articles/PMC4580636?pdf=renderTest

المؤلفون: Lawrence B. Schwartz, Hae Ki Min, Quang Trong Le, Sahar Lotfi-Emran

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 12, p e114944 (2014)

مصطلحات موضوعية: Adult, Genotyping, Genotyping Techniques, lcsh:Medicine, Locus (genetics), Biology, Polymerase Chain Reaction, 03 medical and health sciences, chemistry.chemical_compound, Exon, Young Adult, 0302 clinical medicine, Genotype, Humans, lcsh:Science, Molecular Biology Techniques, Gene, Molecular Biology, 030304 developmental biology, 0303 health sciences, Multidisciplinary, lcsh:R, Biology and Life Sciences, Middle Aged, Molecular biology, EcoRV, Restriction site, chemistry, Biochemistry, Genes, lcsh:Q, Tryptases, Ethidium bromide, DNA, Chromosomes, Human, Pair 16, 030215 immunology, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a7b3a625d833f8e7c7e4430c98b48eTest
https://pubmed.ncbi.nlm.nih.gov/25545679Test

المؤلفون: Tianli Zhao, Jinfu Yang, Shou-Zheng Wang, Zhi-Ping Tan, Weizhi Zhang, Can Huang, Jin-Lan Chen, Yifeng Yang, Li Xie, Jian Wang

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 5, p e96471 (2014)

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 22, lcsh:Medicine, Genome-wide association study, Bioinformatics, law.invention, Chromosomal Disorders, law, Morphogenesis, Medicine and Health Sciences, Copy-number variation, lcsh:Science, Child, Polymerase chain reaction, Oligonucleotide Array Sequence Analysis, Ultrasonography, Genetics, Multidisciplinary, Congenital Heart Defects, Vitamin B 12, Child, Preschool, Female, Pulmonary atresia, Research Article, Heart Defects, Congenital, Adolescent, DNA Copy Number Variations, Cardiology, Biology, Folic Acid, medicine, Humans, In patient, Birth Defects, Genetic Association Studies, Clinical Genetics, Chromosome Aberrations, Evolutionary Biology, Population Biology, lcsh:R, Case-control study, Infant, Newborn, Biology and Life Sciences, Infant, Human Genetics, medicine.disease, Human genetics, Folic acid, Genetic Loci, Pulmonary Atresia, Case-Control Studies, Genetics of Disease, Genetic Polymorphism, lcsh:Q, Population Genetics, Chromosomes, Human, Pair 16, Developmental Biology, Chromosomes, Human, Pair 17, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41da3c50d974b89985aff9da4e8c046cTest
http://europepmc.org/articles/PMC4020819Test

المؤلفون: Stefan Z, Lutz, Olga, Franck, Anja, Böhm, Jürgen, Machann, Fritz, Schick, Fausto, Machicao, Andreas, Fritsche, Hans-Ulrich, Häring, Harald, Staiger

المصدر: PLoS ONE, Vol 9, Iss 7, p e100391 (2014)
PLoS ONE 9:e100391 (2014)
PLoS ONE

مصطلحات موضوعية: Adult, Male, Genotype, lcsh:Medicine, Polymorphism, Single Nucleotide, Biochemistry, Linkage Disequilibrium, White People, Endocrinology, Genomic Medicine, Risk Factors, Germany, Insulin Secretion, Genetics, Medicine and Health Sciences, Diabetes Mellitus, Humans, Insulin, Genetic Predisposition to Disease, Genetic Testing, lcsh:Science, Genetic Association Studies, Adiposity, Clinical Genetics, Diabetic Endocrinology, lcsh:R, Genetic Variation, Biology and Life Sciences, Genomics, Middle Aged, Lipid Metabolism, Hormones, Type 2 Diabetes, Phenotype, Genetic Loci, Metabolic Disorders, Cytokines, Female, lcsh:Q, Insulin Resistance, Chromosomes, Human, Pair 16, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e260188c7aecefc0b6cc8b4b764ed37aTest
http://europepmc.org/articles/PMC4099130?pdf=renderTest

المؤلفون: Johji Inazawa, Kyota Ashikawa, Yusuke Nakamura, Yoshio Miki, Siew-Kee Low, Toyomasa Katagiri, Atsushi Takahashi, Michiaki Kubo

المصدر: PLoS ONE
PLoS ONE, Vol 8, Iss 10, p e76463 (2013)

مصطلحات موضوعية: Linkage disequilibrium, Genotyping Techniques, Population, Population genetics, lcsh:Medicine, Single-nucleotide polymorphism, Genome-wide association study, Breast Neoplasms, Biology, Breast cancer, Asian People, medicine, Humans, education, lcsh:Science, Genetics, education.field_of_study, Multidisciplinary, Chromosomes, Human, Pair 10, lcsh:R, Computational Biology, Genetic Status, Middle Aged, medicine.disease, Genetic Loci, lcsh:Q, Female, Imputation (genetics), Chromosomes, Human, Pair 16, Research Article, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c594faf7951c63439e612589668da8Test
http://europepmc.org/articles/PMC3797071Test

المؤلفون: Peter White, Maria Tropeano, Deb K. Pal, Evangelos Vassos, James Rucker, Gerome Breen, Joris Andrieux, Abhishek Dixit, Peter McGuffin, Richard Dobson, Caroline Mackie Ogilvie, Joo Wook Ahn, David A. Collier, Sarah Curran, Anne Farmer

المساهمون: [ 1 ] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England [ 2 ] Guys & St Thomas NHS Fdn Trust, Dept Cytogenet, London, England [ 3 ] Kings Coll London, Inst Psychiat, Dept Clin Neurosci, London WC2R 2LS, England [ 4 ] Childrens Hosp Philadelphia, Ctr Biomed Informat, Philadelphia, PA 19104 USA [ 5 ] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA [ 6 ] CHRU Lille, Inst Genet Med, Lille, France [ 7 ] Eli Lilly & Co Ltd, Discovery Neurosci Res, Lilly Res Labs, Windlesham, Surrey, England

المصدر: PLoS ONE, Vol 8, Iss 4, p e61365 (2013)
PLoS ONE; Vol 8
PLoS ONE

مصطلحات موضوعية: Male, Microcephaly, Developmental Disabilities, Developmental and Pediatric Neurology, Bioinformatics, Cohort Studies, Chromosomal Disorders, 0302 clinical medicine, Chromosome Duplication, Genome Databases, Copy-number variation, Child, Genome Evolution, Genetics, 0303 health sciences, Comparative Genomic Hybridization, Multidisciplinary, Chromosome Biology, Chromosomal Deletions and Duplications, Genomics, Penetrance, 3. Good health, Phenotype, Neurology, Autism spectrum disorder, Speech delay, Medicine, Female, medicine.symptom, Chromosome Deletion, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Clinical Research Design, Science, Locus (genetics), Biology, Molecular Genetics, Cytogenetics, 03 medical and health sciences, Diagnostic Medicine, mental disorders, medicine, Humans, Genetic Association Studies, 030304 developmental biology, Genetic association, Clinical Genetics, Epilepsy, Human Genetics, medicine.disease, Case-Control Studies, Genetics of Disease, Autism, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9ae790958cff716850d5920a2123caTest
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23637818/?tool=EBITest

المؤلفون: I. V. Sklyar, Yegor S. Vassetzky, E. N. Markova, Chloé Robin, Sergey V. Razin, Ana Barat, E. S. Ioudinkova, Vasily Ogryzko, Andrey Pichugin, Marc Lipinski, Iryna Pirozhkova

المساهمون: Institute of Gene Biology, Russian Academy of Sciences, Signalisation, noyaux et innovations en cancérologie (UMR8126), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), School of Computing [Dublin], Dublin City University [Dublin] (DCU)

المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 10, p e47157 (2012)
PLoS ONE, Public Library of Science, 2012, 7 (10), pp.e47157. ⟨10.1371/journal.pone.0047157⟩

مصطلحات موضوعية: Chromatin Immunoprecipitation, [SDV]Life Sciences [q-bio], DNA transcription, lcsh:Medicine, Gene Expression, Biology, Histones, 03 medical and health sciences, Molecular cell biology, Histone H1, Histone H2A, Histone methylation, Genetics, Histone code, Nucleosome, Humans, lcsh:Science, skin and connective tissue diseases, 030304 developmental biology, 0303 health sciences, Chromosomes, Human, X, Multidisciplinary, Chromosome Biology, Chromosomes, Human, Pair 11, 030302 biochemistry & molecular biology, lcsh:R, Histone Modification, Genomics, Chromatin, Nucleosomes, Histone, biology.protein, lcsh:Q, Epigenetics, Chromatin immunoprecipitation, Chromosomes, Human, Pair 16, Research Article, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1790febdabebabb9ad55962e16690b25Test
http://europepmc.org/articles/PMC3484066Test

المؤلفون: Maria Thom, Joan Liu, Lillian Martinian, Sanjay M. Sisodiya, Dalia Kasperavičiūtė

المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 4, p e34813 (2012)
PLoS ONE; Vol 7

مصطلحات موضوعية: Male, Candidate gene, Pathology, lcsh:Medicine, Bioinformatics, Hippocampus, Epilepsy, 0302 clinical medicine, Copy-number variation, lcsh:Science, Sequence Deletion, Temporal cortex, Cerebral Cortex, 0303 health sciences, Multidisciplinary, Genomics, Temporal Lobe, Medicine, Female, Haploinsufficiency, Microtubule-Associated Proteins, Research Article, Adult, medicine.medical_specialty, Clinical Pathology, Neuropathology, Biology, Temporal lobe, Molecular Genetics, 03 medical and health sciences, Genetic Mutation, Diagnostic Medicine, medicine, Genetics, Humans, Genetic Association Studies, 030304 developmental biology, Clinical Genetics, Hippocampal sclerosis, lcsh:R, Computational Biology, Human Genetics, medicine.disease, Epilepsy, Temporal Lobe, Mutation, Genetics of Disease, Genetic Polymorphism, lcsh:Q, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Population Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8149efac5e85cc46e13c99f499ca2aa5Test
https://pubmed.ncbi.nlm.nih.gov/22523559Test