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المؤلفون: C. H. Buzin, Steve S. Sommer, T. W. Prior, J. Feng, C. Wall, Jerry R. Mendell, D. S. Sangani, J. Yan, C. Serrano
المصدر: Neurology. 57:645-650
مصطلحات موضوعية: Adolescent, Duchenne muscular dystrophy, DNA Mutational Analysis, Nonsense mutation, Gene mutation, Frameshift mutation, Dystrophin, Exon, medicine, Humans, Muscular dystrophy, Child, Frameshift Mutation, Polymorphism, Single-Stranded Conformational, Genetics, biology, Single-strand conformation polymorphism, DNA, medicine.disease, Muscular Dystrophy, Duchenne, Codon, Nonsense, Child, Preschool, Mutation, biology.protein, Neurology (clinical), Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30786ef40bda3a902502fc09c5e4dc46
https://doi.org/10.1212/wnl.57.4.645 -
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المؤلفون: Kozo Fukuyama, Kazuhito Matsuzawa, Sherri Lynn Hubbard, Peter Dirks, James T. Rulka, K. Maisuzawa, S. L. Hubbard, J. T. Rutka, R. F. Del Maestro, I. S. Vaithilingam, W. McDonald, J. B. Weiss, T. Mikkelsen, E. Kohn, K. Nclson, M. L. Rosenblum, Abhijit Guha, Steve Shamah, Charles Stiles, N. P. Dooley, G. H. Baltuch, M. Roslworowski, J. G. Villemure, V. W. Yong, G. Baltuch, M. Rostworowski, W. T. Couldwell, D. R. Hinton, M. H. Weiss, R. Law, William T. Couldwell, David R. Hinton, Ron Law, Martin H. Weiss, J. M. Piepmeier, P. E. Pedersen, C. A. Greer, PB Dirks, SL Hubbard, A. Taghian, W. Budach, J. Freeman, D. Gioioso, H. D. Suit, J. Turner, G. Barron, P. Zia, C. S. Wong, J. Van Dyk, M. Milosevic, N. J. Laperriere, S. T. Myles, C. Lauryssen, E. G. Shaw, B. W. Scheithauer, V. Suman, J. Katzmann, M. Preul, G. Shenouda, A. Langleben, D. Arnold, C. Watling, D. van Meyel, D. Ramsay, G. Cairncross, J. P. Bahary, I. Wainer, M. Pollak, B. Leyland-Jones, A. Tsatoumas, A. Choi, S. S. Rosenfeld, G. Y. Gillespie, C. L. Gladson, J. M. Drake, H. J. Hoffman, R. P. Humphreys, S. Holowka, D. S. Fullon, R. C. Urtasun, Mark G. Hamilton, S. Beals, E. Joganic, R. Spetzler, J. C. Buckner, P. L. Schaefer, R. P. Dinapolit, J. R. O'Fallon, P. A. Burch, C. L. Chandler, K. Hopkins, H. B. Coakham, J. Bullimore, J. T. Kemshead, Mark Bernstein, Normand Laperriere, Stephen MeKenzie, Jennifer Glen, D. Lee, D. Macdonald, P. K. Sneed, P. G. Gulin, D. A. Larson, M. W. McDermott, M. D. Prados, W. M. Wara, K. A. Weaver, L. Gaspar, L. Zamorano, L. Garcia, F. Shamsa, C. Warmelink, D. Yakar, J. A. Espinosa, L. Souhami, J. L. Caron, A. Olivier, E. B. Podgorsak, C. Lindquist, J. S. Loeffler, L. D. Lunsford, H. B. Newton, M. D. Kotur, A. C. Papp, T. W. Prior, N. Roosen, R. Chopra, J. Windham, Matthew Parliament, Allan Franko, Brace Mielke, W. Feindel, D. Tampieri, L. L. Mechtler, S. Wilheim-Leitch, K. Shin, W. R. Kinkel, M. A. Hammoud, R. Sawaya, W. Shi, P. P. Thall, N. Leeds, M. Patel, B. Truax, P. Kinkel, T. M. Cheng, B. P. O'Ncill, D. G. Piepgras, P. J. Frost, W. J. S. Simpson, D. G. Payne, M. Pintilie, D. A. Ramsay, J. Bonnin, D. R. Macdonald, L. Assis, J. G. Villemurel, S. Choi, R. Leblancl, A. Olivieri, G. Bertrandl, J. Hazel, W. Grand, R. Plunkett, F. Munschauer, P. Ostrow, L. Mcchtler, S. Meckling, O. Dold, P. Forsyth, P. Brasher, N. Hagen, L. P. Hudson, A. L. Cooke, P. J. Muller, W. Tucker, R. Moulton, M. Cusimano, J. Bilbao, P. A. Pahapill, C. Sibala, C. West, B. Fisher, W. Pexman, J. Taylor, T. Lee, Stephen W. McKenzie, Tian Zengmin, Liu Zonghui, S. Kirby, B. J. Fisher, D. J. Stewart, W. Roa, B. McClean, S. Buckney, S. Halls, S. Richardson, B. C. Wilson, A. C. Whitton, R. D. Borr, H. Rhydderch, T. Case, D. Feeny, W. Furlong, G. W. Torrance
المصدر: Journal of Neuro-Oncology. 19:175-192
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Neurology, Oncology, business.industry, Neuro oncology, Family medicine, medicine, Environmental ethics, Neurology (clinical), business
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المؤلفون: K J Friedman, W E Highsmith, T W Prior, T R Perry, L M Silverman
المصدر: Clinical Chemistry. 36:441-445
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Duchenne muscular dystrophy, Hybridization probe, Biochemistry (medical), Clinical Biochemistry, Biology, medicine.disease, Molecular biology, Complementary DNA, medicine, Restriction fragment length polymorphism, Muscular dystrophy, Molecular probe, X chromosome, Southern blot
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad64ffe2e11c6e94116dc8848bf4d46b
https://doi.org/10.1093/clinchem/36.3.441 -
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المؤلفون: R E, Pyatt, H, Nakagawa, H, Hampel, M, Sedra, M B, Fuchik, I, Comeras, A, de la Chapelle, T W, Prior
المصدر: Clinical genetics. 63(3)
مصطلحات موضوعية: Male, DNA Repair, Base Pair Mismatch, Exons, Sequence Analysis, DNA, Hybrid Cells, Colorectal Neoplasms, Hereditary Nonpolyposis, Pedigree, Blotting, Southern, Mice, Chromosomes, Human, Pair 2, Animals, Autoradiography, Humans, Female, Gene Deletion, Ohio
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المؤلفون: D Y, Baschinsky, A, Isa, T H, Niemann, T W, Prior, J G, Lucas, W L, Frankel
المصدر: Human pathology. 31(11)
مصطلحات موضوعية: Adult, Micromanipulation, X Chromosome, Dissection, Leiomyomatosis, Uterine Neoplasms, Myometrium, Humans, Female, DNA, Neoplasm, Polymerase Chain Reaction, Clone Cells, DNA Primers
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المؤلفون: T E, Gorman, C J, Julius, R F, Barth, A, Ng, M S, Kennedy, T W, Prior, J, Allen, L C, Lasky
المصدر: American journal of clinical pathology. 113(5)
مصطلحات موضوعية: Immunosuppression Therapy, Male, Pancytopenia, Histocompatibility Testing, Homozygote, Graft vs Host Disease, Middle Aged, DNA Fingerprinting, Methylprednisolone, Polymerase Chain Reaction, Major Histocompatibility Complex, Fatal Outcome, Bone Marrow, Humans, Lymphocytes, Erythrocyte Transfusion, Skin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::325a1bfd13bfa7559a661849c71a8827
https://pubmed.ncbi.nlm.nih.gov/10800407 -
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المؤلفون: R B, Chadwick, J E, Meek, T W, Prior, P, Peltomaki, A, de La Chapelle
المصدر: Human mutation. 16(6)
مصطلحات موضوعية: Adenosine Triphosphatases, Polymorphism, Genetic, Base Sequence, DNA Repair, Base Pair Mismatch, Molecular Sequence Data, Neoplasm Proteins, DNA-Binding Proteins, DNA Repair Enzymes, Sequence Homology, Nucleic Acid, Humans, Genetic Testing, Pseudogenes, Mismatch Repair Endonuclease PMS2, Repetitive Sequences, Nucleic Acid, Sequence Deletion
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المؤلفون: T E, Kelly, K, Amoroso, M, Ferre, J, Blanco, P, Allinson, T W, Prior
المصدر: American journal of medical genetics. 87(1)
مصطلحات موضوعية: Male, Humeral Fractures, Adolescent, DNA Mutational Analysis, Infant, Newborn, Genetic Variation, Infant, RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Spinal Muscular Atrophies of Childhood, Fractures, Bone, Fatal Outcome, Humans, Female, Cyclic AMP Response Element-Binding Protein, Femoral Fractures
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المؤلفون: M D, Mailman, P, Muscarella, W J, Schirmer, E C, Ellison, T M, O'Dorisio, T W, Prior
المصدر: Clinical chemistry. 45(1)
مصطلحات موضوعية: Heterozygote, Paraffin Embedding, Liver Neoplasms, DNA, Neoplasm, Neoplasm Proteins, Pancreatic Neoplasms, Neuroendocrine Tumors, Duodenal Neoplasms, Stomach Neoplasms, Gastrinoma, Proto-Oncogene Proteins, Mutation, Multiple Endocrine Neoplasia Type 1, Humans, Insulinoma, Gastrointestinal Neoplasms
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::952f825c9fe60eeb37f7a5a294139080
https://pubmed.ncbi.nlm.nih.gov/9895334 -
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المؤلفون: C, Bartolo, J R, Mendell, T W, Prior
المصدر: American journal of medical genetics. 79(5)
مصطلحات موضوعية: Adult, Blotting, Southern, Heterozygote, Friedreich Ataxia, DNA Mutational Analysis, Mutation, Missense, Humans, Female, DNA, Genetic Testing, Trinucleotide Repeat Expansion, Pedigree