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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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4دورية أكاديمية
المؤلفون: R. L. Margraf, J. D. Durtschi, J. E. Stephens, M. Perez, K. V. Voelkerding
المصدر: Journal of Thyroid Research, Vol 2012 (2012)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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5دورية 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, 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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المصدر: Human Immunology. 80:144
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Immunology, Urology, General Medicine, Urine, Cell-free fetal DNA, Renal transplant, Cohort, Immunology and Allergy, Medicine, Donor derived, business, Digital droplet pcr