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1دورية أكاديمية
المؤلفون: David K Crockett, Stephen R Piccolo, Perry G Ridge, Rebecca L Margraf, Elaine Lyon, Marc S Williams, Joyce A Mitchell
المصدر: PLoS ONE, Vol 6, Iss 3, p e18380 (2011)
وصف الملف: electronic resource
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المؤلفون: Rebecca L. Margraf, Rachel Z. Alexander, Makenzie L. Fulmer, Christine E. Miller, Elena Coupal, Rong Mao
المصدر: Human mutationREFERENCES.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المصدر: The Journal of molecular diagnostics : JMD. 24(8)
مصطلحات موضوعية: Guanine, Genotype, Trinucleotide Repeats, Friedreich Ataxia, Adenine, Iron-Binding Proteins, Sepharose, Molecular Medicine, Humans, Trinucleotide Repeat Expansion, Polymerase Chain Reaction, Pathology and Forensic Medicine
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المؤلفون: Jamie McDonald, Peter Johnson, Jennifer Thomson, Pinar Bayrak-Toydemir, Gulsen Akay, Chad Vansant-Webb, Rebecca L. Margraf, Eric Briggs, Andrew Farrell, Angela E. Lin, Reed E. Pyeritz, Matt Velinder, Gabor T. Marth, Kevin J. Whitehead, Whitney Wooderchak-Donahue
المصدر: Journal of Medical Genetics. 55:824-830
مصطلحات موضوعية: 0301 basic medicine, Whole genome sequencing, Genetics, Genetic heterogeneity, Intron, Biology, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, RNA splicing, Coding region, Exome, Gene, Genetics (clinical)
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المؤلفون: Rebecca L. Margraf, Qin Zhou, Karl V. Voelkerding, Jacob D. Durtschi, Xiao He, Emily M. Coonrod, Attila Kumánovics, Hemant R. Joshi, Harry R. Hill, Julie Asch
المصدر: Journal of Allergy and Clinical Immunology. 147:1504-1507.e8
مصطلحات موضوعية: Haematopoiesis, Immunology, Cancer research, Immunology and Allergy, Biology
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المؤلفون: Heather Hanson, Jacques L. D’Astous, John C. Carey, Rebecca L. Margraf, David W. Sant, Dave Viskochil, Chad Vansant-Webb, David A. Stevenson, Rong Mao
المصدر: The Journal of Molecular Diagnostics. 19:468-474
مصطلحات موضوعية: Male, 0301 basic medicine, Neurofibromatosis 1, DNA Copy Number Variations, Somatic cell, Loss of Heterozygosity, Allelic Imbalance, Biology, Pathology and Forensic Medicine, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, medicine, Humans, Exome, Copy-number variation, Neurofibromatosis, neoplasms, Genetics, High-Throughput Nucleotide Sequencing, Chromosome, Regular Article, medicine.disease, Chromosome 17 (human), Pseudarthrosis, stomatognathic diseases, 030104 developmental biology, Molecular Medicine, Female, 030217 neurology & neurosurgery
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المؤلفون: Chad Vansant-Webb, Rebecca L. Margraf, David A. Stevenson, John C. Carey, Allie H. Grossmann, David Viskochil, Heather Hanson, Jacques L. D’Astous, Rong Mao
المصدر: Journal of molecular neuroscience : MN. 68(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Neurofibromatosis 1, Loss of Heterozygosity, RASopathy, Biology, Germline, Loss of heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Germline mutation, Gene Frequency, medicine, Humans, Neurofibromatosis, Child, Allele frequency, Genetics, Neurofibromin 1, General Medicine, medicine.disease, Spine, Chromosome 17 (human), 030104 developmental biology, Scoliosis, Allelic Imbalance, Mutation, Female, 030217 neurology & neurosurgery
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المؤلفون: Rebecca L. Margraf PhD, Jacob Durtschi BS, Bryan Krock PhD, Tara M. Newcomb MS, Joshua L. Bonkowsky MD, PhD, Karl V. Voelkerding MD, Pinar Bayrak-Toydemir MD, PhD, Richard E. Lutz MD, Kathryn J. Swoboda MD
المصدر: Child Neurology Open, Vol 5 (2018)
مصطلحات موضوعية: lcsh:RJ1-570, lcsh:Pediatrics, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::6283c848583bf2de6ad5977021c84961
https://doaj.org/article/9b8dd4cc8a39446ba57a2daf7a0446fa -
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المؤلفون: Carol Wise, Nobuhiro Kamiya, Nandina Paria, In Ho Choi, Ila Oxendine, Harry K.W. Kim, David W. Sant, Rebecca L. Margraf, Tae Joon Cho, Rong Mao, Mi Hyun Song, Gerlinde Obermosser, Jonathan J. Rios, Kay Kayembe, David Viskochil, David A. Stevenson
المصدر: Journal of Bone and Mineral Research. 29:2636-2642
مصطلحات موضوعية: Tibial pseudoarthrosis, Regulation of gene expression, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Microarray analysis techniques, Somatic cell, Endocrinology, Diabetes and Metabolism, Autosomal dominant trait, Biology, Neurofibromin 1, Bone remodeling, Gene expression profiling, Cancer research, biology.protein, medicine, Orthopedics and Sports Medicine
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المؤلفون: Karen Eilbeck, Brett Kennedy, Martin G. Reese, Rebecca L. Margraf, Karl V. Voelkerding, Marc Singleton, Chad D. Huff, Mark Yandell, Karin Chen, Stephen L. Guthery, Lynn B. Jorde, Jacob D. Durtschi
المصدر: The American Journal of Human Genetics. 94:599-610
مصطلحات موضوعية: Genetics, Computational biology, Genome project, Disease, Biology, Article, Open Biomedical Ontologies, Databases, Genetic, Mutation, Mutation (genetic algorithm), Humans, Genetic Predisposition to Disease, Genetics(clinical), Identification (biology), Allele, Gene, Alleles, Genetics (clinical), Personal genomics