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المؤلفون: Saam Sedehizadeh, Marzena Wojciechowska, Anna Philips, Katarzyna Kozlowska, Piotr Kozlowski, Agnieszka Piasecka, J D Brook, Katarzyna Taylor, Karol Czubak, Krzysztof Sobczak
مصطلحات موضوعية: musculoskeletal diseases, 0303 health sciences, congenital, hereditary, and neonatal diseases and abnormalities, Biology, medicine.disease, Myotonic dystrophy, Cell biology, 03 medical and health sciences, 0302 clinical medicine, Cell culture, RNA splicing, medicine, Digital polymerase chain reaction, Gene, 030217 neurology & neurosurgery, Biogenesis, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1460c682cf138ce00e7861c2c75f0823
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المؤلفون: Marta López-Morató, J D Brook, Marzena Wojciechowska
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 9 (2018)مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, myotonic dystrophy type 1 pathogenesis, Mutant, Review, Biology, Myotonic dystrophy, lcsh:RC346-429, 03 medical and health sciences, chemistry.chemical_compound, medicine, MBNL1, aberrant alternative splicing, Muscular dystrophy, Gene, myotonic dystrophy type 1, lcsh:Neurology. Diseases of the nervous system, small molecule compounds, Alternative splicing, RNA, medicine.disease, 3. Good health, Cell biology, 030104 developmental biology, Neurology, chemistry, RNA splicing, Neurology (clinical), sequestration of muscleblind-like 1, antisense oligonucleotides, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::becb4283fab31fe8cb1b74821e8befc0
https://pubmed.ncbi.nlm.nih.gov/29867749 -
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المؤلفون: T K, Ghosh, J D, Brook, A, Wilsdon
المصدر: Current topics in developmental biology. 122
مصطلحات موضوعية: Mutation, Animals, Embryonic Development, Gene Expression Regulation, Developmental, Humans, Disease, T-Box Domain Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1524b66f1ceaaf9612e334c6173c0e39
https://pubmed.ncbi.nlm.nih.gov/28057271 -
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مصطلحات موضوعية: 0301 basic medicine, Genetics, TBX1, Embryogenesis, Pax genes, Disease, Biology, ENCODE, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, T-box, 030220 oncology & carcinogenesis, Gene, Transcription factor
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a8719e80ec42f8b6db81d34761c15070
https://doi.org/10.1016/bs.ctdb.2016.08.006 -
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المؤلفون: Greg Lennon, S Cross, J D Brook, Matthew J. Daniels, Marion G. Hamshere
مصطلحات موضوعية: Heart Defects, Congenital, DNA, Complementary, Transcription, Genetic, Biology, Eye, Genome, Embryonic and Fetal Development, Exon trapping, Gene mapping, Chromosome 19, Genetics, Humans, Eye Abnormalities, RNA, Messenger, Expressed Sequence Tags, Internet, Contig, Gene map, Genetic Diseases, Inborn, Chromosome Mapping, Genome project, Asthma, Genes, Human genome, Chromosomes, Human, Pair 19
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ce052eca9e34229adde2054999bbb7
https://ora.ox.ac.uk/objects/uuid:1d5c4926-715f-4953-b471-11cfc6685c1a -
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المؤلفون: S Guioli, D.J. Spillett, Jamie W. Foster, Peter N. Goodfellow, Alan J. Schafer, R.W. Feakes, Michael A. Walter, Ricky Critcher, J D Brook, M A Dominguez-Steglich
المصدر: Genomics. 33:185-192
مصطلحات موضوعية: Genetic Markers, Genetics, Expressed sequence tag, Base Sequence, Contig, Molecular Sequence Data, Chromosome Mapping, Biology, Thymidine Kinase, Genome, DNA sequencing, Cell Line, Chromosome 17 (human), Sequence-tagged site, Gene mapping, Cricetinae, Growth Hormone, Animals, Humans, Microsatellite, Chromosomes, Human, Pair 17, DNA Primers, Sequence Tagged Sites
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المؤلفون: David E. Housman, M Liao, Stephen J. Galli, Edwin N. Geissler, Francis Hall Martin, J D Brook, Krisztina M. Zsebo
المصدر: Somatic Cell and Molecular Genetics. 17:207-214
مصطلحات موضوعية: Somatic cell, Stem cell factor, Locus (genetics), Hybrid Cells, Biology, Hematopoietic Cell Growth Factors, Ligands, Receptor tyrosine kinase, Mice, Proto-Oncogene Proteins, Genetics, Animals, Humans, Growth Substances, Chromosome 12, Synteny, Stem Cell Factor, Chromosomes, Human, Pair 12, Chromosome Mapping, DNA, Cell Biology, General Medicine, Protein-Tyrosine Kinases, Cell biology, ErbB Receptors, Blotting, Southern, Proto-Oncogene Proteins c-kit, Cancer research, biology.protein, Chromosome Deletion, Stem cell
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المؤلفون: S A Rundle, K.V. Walsh, J D Brook, Mansoor Sarfarazi, Manuela C. Koch, H G Harley, Peter S. Harper, Floyd Jl, D.J. Shaw
المصدر: Human Genetics. 87:73-80
مصطلحات موضوعية: Genetic Markers, Genetic Linkage, Locus (genetics), Hybrid Cells, Biology, Myotonic dystrophy, Gene mapping, Genetic linkage, Chromosome 19, Genetics, medicine, Primer walking, Humans, Myotonic Dystrophy, Genetics (clinical), Recombination, Genetic, Polymorphism, Genetic, Chromosome Mapping, Karyotype, medicine.disease, Chromosome Banding, Pedigree, Genetic marker, DNA Probes, Chromosomes, Human, Pair 19
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المؤلفون: J D Brook
المصدر: Nature Genetics. 3:279-281
مصطلحات موضوعية: Genetics, business.industry, Triplet repeat, Biology, medicine.disease, Myotonic dystrophy, law.invention, Text mining, law, Genetic linkage, Genotype, medicine, Base sequence, business, Polymerase chain reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::509b6ce9bc1919244d0c51f2f3df27cf
https://doi.org/10.1038/ng0493-279 -
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المؤلفون: S. Man, J D Brook, G. Cross, Sarah E Pinder, J. Kollias, K.M. Carpenter, M. Marafie, Ian O. Ellis, R.W. Blamey
المصدر: Breast cancer research and treatment. 64(3)
مصطلحات موضوعية: Adult, Cancer Research, Candidate gene, Tumor suppressor gene, DNA Mutational Analysis, Genes, BRCA1, Loss of Heterozygosity, Breast Neoplasms, Biology, Polymerase Chain Reaction, Loss of heterozygosity, Breast cancer, Germline mutation, FHIT, medicine, Carcinoma, Humans, Genetic Predisposition to Disease, Age of Onset, skin and connective tissue diseases, Neoplasm Staging, BRCA2 Protein, Incidence, Carcinoma, Ductal, Breast, Middle Aged, medicine.disease, Neoplasm Proteins, Carcinoma, Lobular, Oncology, Carcinoma, Medullary, Mutation, Cancer research, Female, Microsatellite Repeats, Transcription Factors