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المؤلفون: T R Perry, Pamela J. Snyder, K J Friedman, W E Highsmith, L M Silverman, Jerry R. Mendell, Thomas W. Prior, Audrey C. Papp
المصدر: Clinical Chemistry. 36:2113-2117
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Oligonucleotide, Duchenne muscular dystrophy, Biochemistry (medical), Clinical Biochemistry, Biology, medicine.disease, Molecular biology, Gene dosage, law.invention, Exon, Real-time polymerase chain reaction, law, medicine, Muscular dystrophy, Polymerase chain reaction, Southern blot
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6481cb2186132769d7b2456e37fc8662
https://doi.org/10.1093/clinchem/36.12.2113 -
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المؤلفون: H T Orr, D Schald, K Wagner, T R Perry, M R Knowles, W J Warwick, L M Silverman, R Farber, G L Chong, W E Highsmith
المصدر: Clinical Chemistry. 36:1741-1746
مصطلحات موضوعية: Genetics, education.field_of_study, Point mutation, Biochemistry (medical), Clinical Biochemistry, Haplotype, Population, Genetic Carrier Screening, Biology, law.invention, law, Genetic marker, Genotype, Mutation (genetic algorithm), education, Polymerase chain reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dd1ffc718695c87ea568a3ac4b650ffb
https://doi.org/10.1093/clinchem/36.10.1741 -
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المؤلفون: L M Silverman, T R Perry, G Scheuerbrandt, Thomas W. Prior, W E Highsmith, K J Friedman
المصدر: Clinical Chemistry. 36:1756-1759
مصطلحات موضوعية: musculoskeletal diseases, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Oligonucleotide, business.industry, Duchenne muscular dystrophy, Biochemistry (medical), Clinical Biochemistry, Gene mutation, medicine.disease, medicine.disease_cause, Cystic fibrosis, Exon, Multiplex polymerase chain reaction, medicine, Muscular dystrophy, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6df9e5bb7937b36eb9dcc103f00a98e0
https://doi.org/10.1093/clinchem/36.10.1756 -
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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: William B. Dobyns, T. R. Perry, Xandra O. Breakefield, Allison Brashear, Laurie J. Ozelius, Ian J. Butler, Martin R. Farlow, Laurence E. Walsh, Patricia L. Kramer, E. J. Kasarskis
المصدر: Neurology. 43(12)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Time Factors, Adolescent, Genetic Linkage, Neurological disorder, Asymptomatic, Internal medicine, ATP1A3, otorhinolaryngologic diseases, medicine, Humans, Aged, Dystonia, business.industry, Alternating hemiplegia of childhood, Parkinsonism, Parkinson Disease, Syndrome, Focal dystonia, Middle Aged, medicine.disease, nervous system diseases, Pedigree, Idiopathic Torsion Dystonia, Endocrinology, Female, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cfcb99999ad552be41de4c6a1db37a
https://pubmed.ncbi.nlm.nih.gov/8255463 -
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المؤلفون: T W, Prior, A C, Papp, P J, Snyder, W E, Highsmith, K J, Friedman, T R, Perry, L M, Silverman, J R, Mendell
المصدر: Clinical chemistry. 36(12)
مصطلحات موضوعية: Genetic Carrier Screening, Humans, Exons, Nucleic Acid Amplification Techniques, Polymerase Chain Reaction, Alleles, Muscular Dystrophies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a8bb94dee2763f3498420f65e36d81b7
https://pubmed.ncbi.nlm.nih.gov/2253356 -
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المؤلفون: T W, Prior, W E, Highsmith, K J, Friedman, T R, Perry, G, Scheuerbrandt, L M, Silverman
المصدر: Clinical chemistry. 36(10)
مصطلحات موضوعية: Base Sequence, Blood Stains, Cystic Fibrosis, Genetic Carrier Screening, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Humans, Nucleic Acid Hybridization, Genes, Lethal, Genetic Testing, Polymerase Chain Reaction, Muscular Dystrophies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f4b7669f8e8d8c49f461ba83936b2c39
https://pubmed.ncbi.nlm.nih.gov/2208650 -
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المؤلفون: W E, Highsmith, G L, Chong, H T, Orr, T R, Perry, D, Schald, R, Farber, K, Wagner, M R, Knowles, W J, Warwick, L M, Silverman
المصدر: Clinical chemistry. 36(10)
مصطلحات موضوعية: Risk, Base Sequence, Cystic Fibrosis, Genotype, Genetic Carrier Screening, Phenylalanine, Molecular Sequence Data, Polymerase Chain Reaction, Nucleic Acid Probes, Phenotype, Haplotypes, Mutation, Humans, Chromosome Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1f8b7d2a46e0e7bc8f2ab0a180832e6e
https://pubmed.ncbi.nlm.nih.gov/2208647 -
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المؤلفون: K J, Friedman, W E, Highsmith, T W, Prior, T R, Perry, L M, Silverman
المصدر: Clinical chemistry. 36(4)
مصطلحات موضوعية: Base Sequence, Cystic Fibrosis, Genetic Carrier Screening, Molecular Sequence Data, Mutation, Humans, Chromosome Deletion, Polymerase Chain Reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3d66301190c0c5459481561ac552c8b7
https://pubmed.ncbi.nlm.nih.gov/2208725 -
10
المؤلفون: T W, Prior, K J, Friedman, W E, Highsmith, T R, Perry, L M, Silverman
المصدر: Clinical chemistry. 36(3)
مصطلحات موضوعية: Male, X Chromosome, Base Sequence, Genetic Carrier Screening, Molecular Sequence Data, Gene Amplification, Nucleic Acid Hybridization, Deoxyribonuclease HindIII, Polymerase Chain Reaction, Muscular Dystrophies, Bacterial Proteins, Humans, Female, Chromosome Deletion, DNA Probes, Deoxyribonucleases, Type II Site-Specific, Polymorphism, Restriction Fragment Length
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a1e73d85bb8919873a0c3ded2086af0b
https://pubmed.ncbi.nlm.nih.gov/1968788