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1دورية أكاديمية
المؤلفون: Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono, Ann M. Joseph-George
المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Chromoanasynthesis, SYNGAP1, Familial transmission, Chromoanagenesis, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jonathan M. Coutinho, Roshni R. Singaraja, Martin Kang, David J. Arenillas, Lisa N. Bertram, Nagat Bissada, Bart Staels, Jean-Charles Fruchart, Catherine Fievet, Ann M. Joseph-George, Wyeth W. Wasserman, Michael R. Hayden
المصدر: Journal of Lipid Research, Vol 46, Iss 6, Pp 1113-1123 (2005)
مصطلحات موضوعية: ATP binding cassette type A1, humanized mouse, bacterial artificial chromosome, phylogenetic footprinting, liver X receptor, transcription factor binding site, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520330170; https://doaj.org/toc/0022-2275
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المؤلفون: Wilson W L Sung, S. Mohsen Hosseini, Brett Trost, Stephen W. Scherer, John Wei, James Ellis, Jeffrey R. MacDonald, Sarah Bowdin, Janet A. Buchanan, M. Stephen Meyn, Miriam S. Reuter, Rohan V. Patel, Giovanna Pellecchia, Allison Hazell, Ryan A. Cook, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Jennifer L. Howe, Iris Cohn, Lisa J. Strug, Ryan K. C. Yuen, Peter Pasceri, Yvonne Bombard, Joe Whitney, Hin C. Lee, Tara Paton, Anne S. Bassett, Rosanna Weksberg, Jill Davies, Barbara Kellam, Dimitri J. Stavropoulos, Wei Wei, Christian R. Marshall, Cheryl Shuman, Marc Fiume, Fred W. Keeley, Richard F. Wintle, Matthew R. Hildebrandt, Jo Anne Herbrick, Zhuozhi Wang, Peter N. Ray, Thomas Nalpathamkalam, Ronald D. Cohn, Sherilyn L. Bell, Neal Sondheimer, Daniele Merico, Susan Walker, Ann M. Joseph-George, Melanie M. Mahtani, Asli Romm, Chao Lu, Michael J. Szego, Nasim Monfared
المصدر: Canadian Medical Association Journal. 190:E126-E136
مصطلحات موضوعية: Male, 0301 basic medicine, Genetics, Whole genome sequencing, Canada, Whole Genome Sequencing, Genome, Human, Genetic Variation, Genes, Recessive, Sequence Analysis, DNA, General Medicine, Biology, Genome, Personal Genome Project, 03 medical and health sciences, 030104 developmental biology, Genotype, Genetic variation, Humans, Female, Genetic Predisposition to Disease, Human genome, Letters, Copy-number variation, Allele
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المؤلفون: Ebba Alkhunaizi, Ann M. Joseph-George, Fowzan S. Alkuraya, Susan Blaser, Sanjay Kumar Bharti, Mais Hashem, Nicole Martin, Ranad Shaheen, Robert M. Brosh, David Chitayat, Mohammed Al-Owain, Mohammed A. Butt, Ghada M H Abdel-Salam, Karen Chong, Blake C. Papsin, Ruth Godoy
المصدر: American journal of medical genetics. Part A. 176(11)
مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Microcephaly, Hearing loss, Biology, Article, DEAD-box RNA Helicases, 03 medical and health sciences, 0302 clinical medicine, DDX11, Genotype, Genetics, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Child, Genetics (clinical), Exome sequencing, Protein Stability, DNA Helicases, Infant, Newborn, Facies, Infant, Chromosome Breakage, Syndrome, medicine.disease, Phenotype, Magnetic Resonance Imaging, Hypoplasia, 030104 developmental biology, Gene Expression Regulation, Child, Preschool, Ear, Inner, Sensorineural hearing loss, Female, medicine.symptom, Tomography, X-Ray Computed, Proteasome Inhibitors, 030217 neurology & neurosurgery
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المؤلفون: Stephen W. Scherer, Bhooma Thiruvahindrapuram, Ann M. Joseph-George, Peter Kannu, Emmanuelle Lemyre, Ada Chan, Susan Walker, Mary Shago, Grace Yoon, Janet A. Buchanan, Abdul Noor, Lia D’Abate, Christian R. Marshall, Melissa T. Carter, Sonia Nizard, Mehdi Zarrei, Géraldine Mathonnet, Kristiina Tammimies, Thomas Nalpathamkalam, Ryan K. C. Yuen, Mohammed Uddin, Frédérique Tihy, Daniele Merico, Dimitri J. Stavropoulos, Giovanna Pellecchia, Matthew J. Gazzellone, Erik C. Thorland, Koenraad Devriendt, Marsha Speevak
المصدر: Scientific Reports
مصطلحات موضوعية: Adult, Male, Proteomics, 0301 basic medicine, Candidate gene, DNA Copy Number Variations, Developmental Disabilities, Cell Cycle Proteins, Genome-wide association study, Biology, Gene dosage, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Child, Gene, Adaptor Proteins, Signal Transducing, Genetics, Regulation of gene expression, Multidisciplinary, Gene Expression Profiling, Brain, Gene Expression Regulation, Developmental, Gene expression profiling, 030104 developmental biology, Female, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: Electronic; application/pdf
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المصدر: Neurology: Genetics
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Activities of daily living, media_common.quotation_subject, Ring chromosome 20, Bioinformatics, Irritability, Mood Lability, 03 medical and health sciences, 0302 clinical medicine, medicine, Girl, Clinical/Scientific Notes, Genetics (clinical), media_common, Sleep attacks, business.industry, medicine.disease, Sleep in non-human animals, 030104 developmental biology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Altered level of consciousness
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a2c37f77289450cd006d9bbee8a216
https://pubmed.ncbi.nlm.nih.gov/27066580 -
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المؤلفون: Charles Lee, Matthew E. Hurles, Xavier Estivill, Muhammad Rafiq, Lars Feuk, Yongshu He, Stephen W. Scherer, Lorena Pantano, Ann M. Joseph-George, Keith W. Jones, Richard J. Mural, Richard Redon, Razi Khaja, John Wei, Junjun Zhang, Lluís Armengol, Mary Shago, Hiroyuki Aburatani, Cheng Qian, Jeffrey R. MacDonald
المصدر: Nature Genetics. 38:1413-1418
مصطلحات موضوعية: Genetics, Base Sequence, Genome, Human, Genetic Variation, Sequence assembly, Genomics, DNA, Computational biology, Biology, Polymerase Chain Reaction, Genome, Article, DNA sequencing, Structural variation, Humans, Human genome, Copy-number variation, Sequence Alignment, In Situ Hybridization, Fluorescence, Segmental duplication
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المؤلفون: Ann M. Joseph-George, Claire Jones, David Chitayat, Matthew Vlasschaert, Georges Maire, Karen Chong, Elena Kolomietz, Rebecca Arthur, Diane Myles-Reid
المصدر: Systems biology in reproductive medicine. 60(6)
مصطلحات موضوعية: Adult, Abortion, Habitual, Heterozygote, Urology, medicine.medical_treatment, Biopsy, Fertilization in Vitro, Biology, Preimplantation genetic diagnosis, Predictive Value of Tests, Pregnancy, medicine, Humans, Genetic Testing, Treatment Failure, Genetic risk, In Situ Hybridization, Fluorescence, Preimplantation Diagnosis, Genetics, Chromosome Aberrations, Comparative Genomic Hybridization, In vitro fertilisation, Chromosome, Embryo, Embryo Transfer, Blastocyst, Reproductive Medicine, Chromosomes, Human, Pair 1, embryonic structures, Female, Ploidy, Trophectoderm biopsy, Comparative genomic hybridization
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المؤلفون: Cynthia J. Guidos, Eniko Papp, Jayne S. Danska, Paul E. Kowalski, Raymond C.C. Wong, Ildiko Grandal, Radia M. Johnson, Lauryl M. J. Nutter, Ann M. Joseph-George
المصدر: Genesdevelopment. 28(11)
مصطلحات موضوعية: DNA End-Joining Repair, Endogenous retrovirus, Biology, medicine.disease_cause, Receptor tyrosine kinase, Mice, hemic and lymphatic diseases, Genetics, medicine, STAT5 Transcription Factor, Tumor Cells, Cultured, Animals, Phosphorylation, B cell, STAT5, Cell Proliferation, Recombination, Genetic, Mutation, B-Lymphocytes, Leukemia, Gene Expression Regulation, Leukemic, hemic and immune systems, Hematopoietic Stem Cells, Long terminal repeat, Protein Structure, Tertiary, Non-homologous end joining, medicine.anatomical_structure, fms-Like Tyrosine Kinase 3, Fms-Like Tyrosine Kinase 3, embryonic structures, Cancer research, biology.protein, Moloney murine leukemia virus, Developmental Biology, Signal Transduction, Research Paper
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7cc828e2fe7671f21c45a72116bcf8
https://pubmed.ncbi.nlm.nih.gov/24888589 -
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المؤلفون: Yongshu He, Ann M. Joseph-George, Christian R. Marshall, Kathy Chun, Ciara A Fahey, David Chitayat, Jeffrey R. MacDonald, Greg Ryan, Elizabeth J.T. Winsor, Raymond C.C. Wong, Anne Summers, Stephen W. Scherer
المصدر: Journal of medical genetics. 48(5)
مصطلحات موضوعية: Genetics, Adult, medicine.medical_specialty, Euchromatin, DNA Copy Number Variations, Cytogenetics, Gene Amplification, Chromosome 9, Context (language use), Biology, Microarray Analysis, Molecular cytogenetics, Fetus, Gene mapping, Gene duplication, Chromosome Duplication, medicine, Humans, Chromosome Deletion, Chromosomes, Human, Pair 9, Genetics (clinical), In Situ Hybridization, Fluorescence, Segmental duplication