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المؤلفون: Daniel J. Donoghue, Jinny Szabo, William R. Wilcox, Clair A. Francomano, Ethylin Wang Jabs, John J. Wasmuth, Alexander E. Fraley, Gary A. Bellus, Michael J. Bamshad, Wen Jiang, Melanie K. Webster, Patricia L. Tavormina, Iain Mcintosh, Leslie M. Thompson
المصدر: The American Journal of Human Genetics. 64(3):722-731
مصطلحات موضوعية: medicine.medical_specialty, Thanatophoric Dysplasia, Thanatophoric dysplasia, Developmental delay, Developmental Disabilities, Immunoblotting, Mutation, Missense, Acanthosis nigricans, Biology, Models, Biological, Bone and Bones, Skin, skeletal, brain dysplasia, Achondroplasia, Craniosynostoses, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Genetics, Humans, Point Mutation, Receptor, Fibroblast Growth Factor, Type 3, Missense mutation, Genetics(clinical), Kinase activity, SADDAN, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Point mutation, Phosphotransferases, Protein-Tyrosine Kinases, Fibroblast growth factor receptor 3, medicine.disease, Precipitin Tests, Receptors, Fibroblast Growth Factor, Radiography, Phenotype, Endocrinology, Mutagenesis, Site-Directed, 030217 neurology & neurosurgery, Research Article
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المؤلفون: Simin Hakim, M. Anne Spence, Marko Vujicic, John Douglas Mcpherson, Barbara L. Apostol, Caryn Wagner-McPherson, Deanna M. Church, Michael Lovett, Rachelle Markovich, Mary Carol Krane, Robert K. Moyzis, Miguel Ortega, Peter S. Masny, John J. Wasmuth, Richard G. Del Mastro, Allan Segal, John Vu, Deborah L. Grady, Elizabeth Baer, Naeema Aziz, Genalyn Gonzales
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Genetic Markers, Genetics, Likelihood Functions, Positional cloning, Contig, Gene map, Centromere, Molecular Sequence Data, Chromosome Mapping, Chromosome, Hybrid Cells, Biology, Cosmids, Polymerase Chain Reaction, Genome, Sequence-tagged site, Chromosomes, Human, Pair 5, Humans, Human genome, Lod Score, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Tagged Sites
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2d0ba0489bfe2452208aa4cfd847275
https://doi.org/10.1101/gr.7.9.897 -
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المصدر: Human Molecular Genetics. 5:1567-1575
مصطلحات موضوعية: musculoskeletal diseases, Genetics, General Medicine, Biology, medicine.disease, Genome, Variable number tandem repeat, Tandem repeat, medicine, Direct repeat, Facioscapulohumeral muscular dystrophy, Human genome, Repeated sequence, Molecular Biology, Genetics (clinical), Genomic organization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6c90b4ece5a20fec1cd4025e4bd83f05
https://doi.org/10.1093/hmg/5.10.1567 -
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المؤلفون: Snijders Aj, C W Lyman, Shihong Li, John J. Wasmuth, S Brill, Andre Bernards, D M Church, Lawrence Weissbach
المصدر: Molecular and Cellular Biology. 16:4869-4878
مصطلحات موضوعية: RHOA, GTPase-activating protein, Recombinant Fusion Proteins, Molecular Sequence Data, Cell Cycle Proteins, macromolecular substances, GTPase, Filamin, GTP Phosphohydrolases, WW domain, GTP-binding protein regulators, IQGAP1, Calmodulin, GTP-Binding Proteins, Schizosaccharomyces, Humans, Amino Acid Sequence, Molecular Biology, cdc42 GTP-Binding Protein, Saccharomyces cerevisiae, Base Sequence, Sequence Homology, Amino Acid, biology, Cell Biology, Actins, Protein Structure, Tertiary, rac GTP-Binding Proteins, Biochemistry, ras GTPase-Activating Proteins, biology.protein, Carrier Proteins, Sequence Alignment, Protein Binding, Research Article, Binding domain
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المؤلفون: null The Treacher Collins Syndrome Colla, Jill Dixon, Sara J. Edwards, Amanda J. Gladwin, Michael J. Dixon, Stacie K. Loftus, Cynthia A. Bonner, Kathryn Koprivnikar, John J. Wasmuth
المصدر: Nature Genetics. 12:130-136
مصطلحات موضوعية: Genetics, Pathogenesis, Positional cloning, Genetic marker, Treacle, Transcription (biology), medicine, Craniofacial, Biology, medicine.disease, Treacher Collins syndrome, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d7396e40a4070c8b24f980510b5cc07c
https://doi.org/10.1038/ng0296-130 -
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المؤلفون: Raoul C.M. Hennekam, Jill Dixon, Michael J. Dixon, Stacie K. Loftus, Amanda J. Gladwin, John J. Wasmuth, Sara J. Edwards
المساهمون: Other departments
المصدر: Human molecular genetics, 5(10), 1533-1538. Oxford University Press
Scopus-Elsevierمصطلحات موضوعية: Genetics, Exons, General Medicine, Biology, medicine.disease, Molecular biology, Stop codon, Frameshift mutation, Exon, Genes, medicine, Humans, Coding region, Missense mutation, Insertion, Frameshift Mutation, Haploinsufficiency, Molecular Biology, Treacher Collins syndrome, Gene Deletion, Mandibulofacial Dysostosis, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6161154d27f676769eaaf7c9159f3d7e
https://doi.org/10.1093/hmg/5.10.1533 -
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المؤلفون: B. F. Brandriff, John J. Wasmuth, Shioko Kimura, Ibrahim A. Aksoy, Richard M. Weinshilboum, Chengtao Her
المصدر: Genomics. 29:16-23
مصطلحات موضوعية: endocrine system, TATA box, Guinea Pigs, Molecular Sequence Data, Molecular cloning, Biology, Polymerase Chain Reaction, Exon, Rapid amplification of cDNA ends, Gene mapping, Sequence Homology, Nucleic Acid, Complementary DNA, Genetics, Animals, Humans, Amino Acid Sequence, Estrogen Sulfotransferase, Cloning, Molecular, Gene, Conserved Sequence, Phylogeny, DNA Primers, Base Sequence, Chromosome Mapping, Hominidae, Exons, Molecular biology, Introns, Rats, Liver, Chromosomes, Human, Pair 4, Sulfotransferases
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المؤلفون: John J. Wasmuth, Cynthia A. Bonner, Stacie K. Loftus
المصدر: Genomics. 28:206-211
مصطلحات موضوعية: Adult, DNA, Complementary, Colon, Molecular Sequence Data, Homeobox A1, Biology, Homeobox protein Nkx-2.5, Avian Proteins, Embryonic and Fetal Development, Mice, Species Specificity, Complementary DNA, Intestine, Small, Genetics, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, Homeodomain Proteins, Base Sequence, Contig, cDNA library, DLX3, Genes, Homeobox, Chromosome Mapping, HNF1B, Molecular biology, Homeobox
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المؤلفون: Amanda J. Gladwin, Peter J. Scambler, John J. Wasmuth, Stacie K. Loftus, Michael J. Dixon, Jill Dixon
المصدر: Genomics. 26:239-244
مصطلحات موضوعية: Untranslated region, Yeast artificial chromosome, Molecular Sequence Data, Locus (genetics), Molecular cloning, Biology, Amidohydrolases, Gene mapping, Sequence Homology, Nucleic Acid, Genetics, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Mammals, Base Sequence, Contig, Chromosome Mapping, Cosmids, medicine.disease, Molecular biology, Genes, Cosmid, Chromosomes, Human, Pair 5, Sulfotransferases, Chickens, Sequence Alignment, Treacher Collins syndrome, Mandibulofacial Dysostosis
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المؤلفون: Arthur H.M. Burghes, Camille Rochette, Jerry R. Mendell, Susan E. Ingraham, Louise R. Simard, Christine J. DiDonato, Terri G. Thompson, Thomas O. Crawford, John J. Wasmuth
المصدر: Nature Genetics. 9:56-62
مصطلحات موضوعية: Candidate gene, DNA, Complementary, Transcription, Genetic, Molecular Sequence Data, Locus (genetics), Biology, Muscular Atrophy, Spinal, Exon, Gene mapping, Complementary DNA, Genetics, medicine, Humans, Allele, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Base Sequence, Homozygote, Chromosome Mapping, Exons, Spinal muscular atrophy, SMA, medicine.disease, Phenotype, Chromosomes, Human, Pair 5
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab03513d8cd7767062ee307c34102d4c
https://doi.org/10.1038/ng0195-56