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1دورية أكاديمية
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Michael P. Clarke, James Love, Amanda J. Churchill, Tony Moore, Françoise Meire, Veronica van Heyningen, Isabel M. Hanson, Richard Axton
المصدر: Human Molecular Genetics. 8:165-172
مصطلحات موضوعية: Male, PAX6 Transcription Factor, media_common.quotation_subject, DNA Mutational Analysis, Molecular Sequence Data, Nonsense, Mutation, Missense, Biology, medicine.disease_cause, Cataract, Ectopia Lentis, Nystagmus, Pathologic, Genetics, medicine, Humans, Paired Box Transcription Factors, Missense mutation, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Aniridia, Molecular Biology, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), media_common, Family Health, Homeodomain Proteins, Mutation, Binding Sites, Sequence Homology, Amino Acid, General Medicine, medicine.disease, Phenotype, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Amino Acid Substitution, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333005a723e202b9db0319f2a36e9725Test
https://doi.org/10.1093/hmg/8.2.165Test -
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المؤلفون: Kay Metcalfe, Alison Brown, Veronica van Heyningen, Robin M. Winter, Alessandro Bulfone, Marie Robertson, Alessandro DeGrandi, Sandro Banfi, Dian Donnai, Andrea Ballabio, Giuseppe Borsani, Isabel M. Hanson, Loris Bernard, Claudio Gattuso, Richard Axton, Margherita Mariani, Michael J. Dixon
المساهمون: Borsani, G, Degrandi, A, Ballabio, A, Bulfone, A, Bernard, L, Banfi, Sandro, Gattuso, C, Mariani, M, Dixon, M, Donnai, D, Metcalfe, K, Winter, R, Robertson, M, Axton, R, Brown, A, van Heyningen, V, Hanson, I.
المصدر: Human Molecular Genetics. 8:11-23
مصطلحات موضوعية: DNA, Complementary, Molecular Sequence Data, Sequence Homology, Genes, Insect, Biology, Eye, Homology (biology), Mice, Species Specificity, Gene mapping, Complementary, Centromere, Gene expression, Genetics, Animals, Humans, Drosophila Proteins, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Molecular Biology, Gene, Peptide sequence, In Situ Hybridization, Genetics (clinical), Sequence Homology, Amino Acid, Base Sequence, Alternative splicing, Alternative Splicing, Chromosome Mapping, Drosophila, Mutation, Trans-Activators, DNA, General Medicine, Amino Acid, Genes, Insect, Drosophila Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3794d67e8444628e9cc197cebf945fb4Test
https://doi.org/10.1093/hmg/8.1.11Test -
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المؤلفون: Richard Axton, Isabel M. Hanson
المصدر: Technical Tips Online. 3(1):56-59
مصطلحات موضوعية: Cloning & Sequencing, law, Cloning sequencing, Mutation detection, Biology, Nested polymerase chain reaction, Molecular biology, Polymerase chain reaction, law.invention
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f503430c86cbcc212642bacffbd2894cTest
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المصدر: Human Mutation. 12:128-134
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Biology, Polymerase Chain Reaction, Keratitis, Genetics, medicine, Humans, Paired Box Transcription Factors, Point Mutation, Lymphocytes, Eye Proteins, Frameshift Mutation, Gene, Cells, Cultured, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Sequence (medicine), Homeodomain Proteins, Blood Cells, Single-strand conformation polymorphism, Exons, Sequence Analysis, DNA, medicine.disease, eye diseases, Hypoplasia, DNA-Binding Proteins, Repressor Proteins, Phenotype, Aniridia, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9100c0a2e9923f51ecd09a7e77d8d29dTest
https://doi.org/10.1002Test/(sici)1098-1004(1998)12:2<128::aid-humu8>3.0.co;2-n -
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المؤلفون: Richard Axton
المصدر: The Journal of Ecclesiastical History. 44:533-538
مصطلحات موضوعية: History, George (robot), Religious studies, Media studies, Classics, Drama
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a8e200dc9d0e7d0b80abe6574dece43eTest
https://doi.org/10.1017/s0022046900014329Test -
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المؤلفون: Richard Axton, Philippe Gautier, John J. Mullins, Julie Wallis, David G. Brownstein, Gurman Pall, Lesley M. Forrester, Christine Mulford, Katrin Buerger
المصدر: Genomics. 84(6)
مصطلحات موضوعية: Male, Heterozygote, Heart Ventricles, Molecular Sequence Data, Muscle Proteins, Locus (genetics), Genomics, Biology, Mice, Gene trapping, Genetics, Animals, Amino Acid Sequence, Gene, Crosses, Genetic, Sequence Homology, Amino Acid, Homozygote, Mucins, Gene Expression Regulation, Developmental, Membrane Proteins, Phenotype, Transmembrane protein, Major sperm protein, Mice, Inbred C57BL, Transmembrane domain, Female, Trefoil Factor-2, Peptides
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f64ef6993d1d6b91e4c893c1b80df81Test
https://pubmed.ncbi.nlm.nih.gov/15533722Test -
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المؤلفون: Bernard S. Kaplan, Veronica van Heyningen, L S Finn, Richard Axton, Kathy Williamson, Joseph R. Sherbotie
المصدر: Pediatric nephrology (Berlin, Germany). 14(12)
مصطلحات موضوعية: Hemolytic anemia, Male, medicine.medical_specialty, Denys–Drash syndrome, Nephrotic Syndrome, Molecular Sequence Data, Disorders of Sex Development, urologic and male genital diseases, Kidney, Gastroenterology, Wilms Tumor, Nephropathy, hemic and lymphatic diseases, Internal medicine, Atypical hemolytic uremic syndrome, medicine, Humans, WT1 Proteins, Base Sequence, business.industry, Glomerulosclerosis, Focal Segmental, Infant, Glomerulonephritis, Wilms' tumor, DNA, Syndrome, medicine.disease, female genital diseases and pregnancy complications, Glomerular Mesangium, DNA-Binding Proteins, Nephrology, Pediatrics, Perinatology and Child Health, Immunology, Hemolytic-Uremic Syndrome, Mutation, Kidney Failure, Chronic, business, Nephrotic syndrome, Kidney disease, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117f7a19bbc5997dbad72249f44f5b18Test
https://pubmed.ncbi.nlm.nih.gov/11045393Test -
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المؤلفون: Maria Giuseppina Miano, Alfons Meindl, Richard Axton, Thomas Meitinger, Brian Tulloch, Alan Lennon, Raf Vervoort, Alfredo Ciccodicola, Alan C. Bird, Alan F. Wright
المصدر: Nature genetics
25 (2000): 462.
info:cnr-pdr/source/autori:Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF./titolo:Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa./doi:/rivista:Nature genetics (Print)/anno:2000/pagina_da:/pagina_a:462/intervallo_pagine:462/volume:25مصطلحات موضوعية: X Chromosome, Positional cloning, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Exon, Mice, Open Reading Frames, Genetic linkage, Sequence Homology, Nucleic Acid, Retinitis pigmentosa, Genetics, medicine, Tumor Cells, Cultured, Animals, Humans, Amino Acid Sequence, Eye Proteins, Gene, X chromosome, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Family Health, Base Sequence, Sequence Homology, Amino Acid, Fishes, Retinitis pigmentosa GTPase regulator, DNA, Exons, medicine.disease, Molecular biology, eye diseases, Alternative Splicing, Mutagenesis, Insertional, Mutation, RPGR, XLRP patients, Cattle, Carrier Proteins, Sequence Alignment, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c37a71204a2a89b6e3d0225538a2365Test
http://www.cnr.it/prodotto/i/243407Test -
10دورية أكاديمية
المؤلفون: Annette Gilfillan, Richard Axton, David J. H. Brock
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
