المؤلفون: Shelton, G, Mickelson, James, Friedenberg, Steven, Cullen, Jonah, Graham, Karina, Carpentier, Missy, Guo, Ling, Minor, Katie

المصدر: Animals. 14(5)

مصطلحات موضوعية: Sanger sequencing, dog, myopathy, non-dystrophic myotonia, whole genome sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3w7797wt
https://escholarship.org/content/qt3w7797wt/qt3w7797wt.pdf

المؤلفون: Jankelunas, Leanne, Murthy, Vishal D, Chen, Annie V, Minor, Katie M, Friedenberg, Steven G, Cullen, Jonah N, Guo, Ling T, Mickelson, James R, Shelton, G Diane

مصطلحات موضوعية: Veterinary Sciences, Agricultural, Veterinary and Food Sciences, Intellectual and Developmental Disabilities (IDD), Genetics, Biotechnology, Muscular Dystrophy, Brain Disorders, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, collagen, joint laxity, myopathy, sequencing, Veterinary sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6kf2m8xq

المؤلفون: Shelton, G, Minor, Katie, Friedenberg, Steven, Cullen, Jonah, Guo, Ling, Mickelson, James

المصدر: Genes. 14(8)

مصطلحات موضوعية: animal model, dog, muscle, myopathy, whole genome sequencing, Dogs, Animals, Muscular Dystrophy, Duchenne, Muscular Dystrophies, Limb-Girdle, Extracellular Matrix, Laminin, Mutation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9fc520b8
https://escholarship.org/content/qt9fc520b8/qt9fc520b8.pdf

المؤلفون: Shelton, G Diane, Minor, Katie M, Vieira, Natassia M, Kunkel, Louis M, Friedenberg, Steven G, Cullen, Jonah N, Guo, Ling T, Zatz, Mayana, Mickelson, James R

المصدر: Neuromuscular Disorders. 32(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Intellectual and Developmental Disabilities (IDD), Pediatric, Duchenne/ Becker Muscular Dystrophy, Genetics, Brain Disorders, Muscular Dystrophy, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Dogs, Humans, Muscular Dystrophy, Duchenne, Dystrophin, Exons, Phenotype, Muscle, Skeletal, Introns, Dog, Myopathy, Muscular dystrophy, Whole genome sequencing, Medical Physiology, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44q2r1tq
https://escholarship.org/content/qt44q2r1tq/qt44q2r1tq.pdf

المؤلفون: Shelton, G, Minor, Katie, Guo, Ling, Thomas-Hollands, Alison, Walsh, Koranda, Friedenberg, Steven, Cullen, Jonah, Mickelson, James

المصدر: Genes. 13(8)

مصطلحات موضوعية: anemia, animal model, dog, muscle, myopathy, whole genome sequencing, Anemia, Dyserythropoietic, Congenital, Animals, Codon, Nonsense, Dogs, Mice, Muscular Atrophy, Mutation, Myopathies, Structural, Congenital

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3785j1sg
https://escholarship.org/content/qt3785j1sg/qt3785j1sg.pdf

المؤلفون: Shelton, G, Minor, Katie, Thomovsky, Stephanie, Guo, Ling, Friedenberg, Steven, Cullen, Jonah, Mickelson, James

المصدر: Journal of Veterinary Internal Medicine. 36(1)

مصطلحات موضوعية: laminin α2, muscle, myopathy, whole genome sequencing, Animals, Biopsy, Dog Diseases, Dogs, Female, Gene Deletion, Laminin, Muscle, Skeletal, Muscular Dystrophies, Phenotype

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8h69d4gc
https://escholarship.org/content/qt8h69d4gc/qt8h69d4gc.pdf

المؤلفون: Mickelson, James R, Minor, Katie M, Guo, Ling T, Friedenberg, Steven G, Cullen, Jonah N, Ciavarella, Amanda, Hambrook, Lydia E, Brenner, Karen M, Helmond, Sarah E, Marks, Stanley L, Shelton, G Diane

المصدر: Skeletal Muscle. 11(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Animals, Dog Diseases, Dogs, Muscular Dystrophies, Limb-Girdle, Mutation, Sarcoglycanopathies, Sarcoglycans, Medical Physiology, Biomedical and Clinical Sciences, Duchenne/ Becker Muscular Dystrophy, Pediatric, Disease Models, Animal, Dystrophin, Family, Male, Muscle, Skeletal, Muscular Dystrophy, Animal, Muscular Dystrophy, Duchenne, Pedigree, Phenotype, Utrophin, Myopathy, Canine, Animal model, Sarcoglycanopathy, Gene mutation, Medical physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3r82r6wn
https://escholarship.org/content/qt3r82r6wn/qt3r82r6wn.pdf

المؤلفون: Shelton, G Diane, Minor, Katie M, Guo, Ling T, Friedenberg, Steven G, Cullen, Jonah N, Hord, Jeffrey M, Venzke, David, Anderson, Mary E, Devereaux, Megan, Prouty, Sally J, Handelman, Caryl, Campbell, Kevin P, Mickelson, James R

المصدر: Neuromuscular Disorders. 31(11)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Pediatric, Brain Disorders, Genetics, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Animals, Dog Diseases, Dogs, Dystroglycans, Glycosylation, Muscle, Skeletal, Muscular Dystrophy, Animal, Mutation, Phenotype, Dog, Myopathy, alpha-dystroglycan, α-dystroglycan, Clinical Sciences, Neurosciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2781k62r

المؤلفون: Bannasch, Danika L, Kaelin, Christopher B, Letko, Anna, Loechel, Robert, Hug, Petra, Jagannathan, Vidhya, Henkel, Jan, Roosje, Petra, Hytönen, Marjo K, Lohi, Hannes, Arumilli, Meharji, Minor, Katie M, Mickelson, James R, Drögemüller, Cord, Barsh, Gregory S, Leeb, Tosso

المصدر: Nature Ecology & Evolution. 5(10)

مصطلحات موضوعية: Biological Sciences, Ecology, Evolutionary Biology, Genetics, Aetiology, 2.2 Factors relating to the physical environment, Animals, Color, Dogs, Domestication, Phylogeny, Selection, Genetic, Wolves, DoGA consortium, Evolutionary biology, Environmental management

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5b09x5r5
https://escholarship.org/content/qt5b09x5r5/qt5b09x5r5.pdf

المؤلفون: Bolduc, Véronique, Minor, Katie M, Hu, Ying, Kaur, Rupleen, Friedenberg, Steven G, Van Buren, Samantha, Guo, Ling T, Glennon, Joseph C, Marioni-Henry, Katia, Mickelson, James R, Bönnemann, Carsten G, Shelton, G Diane

المصدر: Neuromuscular Disorders. 30(5)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Collagen Type VI, Dogs, Female, Male, Muscular Dystrophies, Pedigree, Whole Genome Sequencing, Canine, Muscle, Myopathy, Collagen VI, Clinical Sciences, Neurosciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4rk0j85m

المؤلفون: Leeb, Tosso, Leuthard, Fabienne, Jagannathan, Vidhya, Kiener, Sarah, Letko, Anna, Roosje, Petra, Welle, Monika M, Gailbreath, Katherine L, Cannon, Andrea, Linek, Monika, Banovic, Frane, Olivry, Thierry, White, Stephen D, Batcher, Kevin, Bannasch, Danika, Minor, Katie M, Mickelson, James R, Hytönen, Marjo K, Lohi, Hannes, Mauldin, Elizabeth A, Casal, Margret L

المصدر: Genes. 11(2)

مصطلحات موضوعية: Animals, Dogs, Lupus Erythematosus, Cutaneous, Dog Diseases, Membrane Transport Proteins, Mutation, Missense, Male, Genome-Wide Association Study, Whole Genome Sequencing, CLE, Canis familiaris, SLE, TLR7, animal model, dermatology, immunology, skin, syndecan binding protein, syntenin-1, systemic lupus erythematosus, toll-like receptor, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/56z6g3r6

المؤلفون: Anderegg, Linda, Gut, Michelle Im Hof, Hetzel, Udo, Howerth, Elizabeth W, Leuthard, Fabienne, Kyöstilä, Kaisa, Lohi, Hannes, Pettitt, Louise, Mellersh, Cathryn, Minor, Katie M, Mickelson, James R, Batcher, Kevin, Bannasch, Danika, Jagannathan, Vidhya, Leeb, Tosso

المصدر: PLOS Genetics. 15(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Biotechnology, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Animals, Breeding, Cilia, Ciliary Motility Disorders, Dogs, Female, Frameshift Mutation, Genetic Linkage, Genetic Testing, Genotype, Humans, Male, Mutation, NM23 Nucleoside Diphosphate Kinases, Phenotype, Whole Genome Sequencing, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6c85f5vs
https://escholarship.org/content/qt6c85f5vs/qt6c85f5vs.pdf

المؤلفون: Lucot, Katherine L, Dickinson, Peter J, Finno, Carrie J, Mansour, Tamer A, Letko, Anna, Minor, Katherine M, Mickelson, James R, Drögemüller, Cord, Brown, C Titus, Bannasch, Danika L

المصدر: G3: Genes, Genomes, Genetics. 8(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurosciences, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Animals, Chromosomes, Dog Diseases, Dogs, Haplotypes, Mutation, Missense, Neuroaxonal Dystrophies, Vesicular Transport Proteins, autophagy, canine, lysosome, neurodegenerative, inherited, genetic, Biochemistry and cell biology, Statistics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/15j103gh
https://escholarship.org/content/qt15j103gh/qt15j103gh.pdf

المؤلفون: Ekenstedt, Kari J., Minor, Katie M., Shelton, G. Diane, Hammond, James J., Miller, Andrew D., Taylor, Susan M., Huang, Yanyun, Mickelson, James R.

المساهمون: NIH Office of the Director

المصدر: Human Genetics ; volume 142, issue 11, page 1587-1601 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-023-02599-1
https://link.springer.com/content/pdf/10.1007/s00439-023-02599-1.pdf
https://link.springer.com/article/10.1007/s00439-023-02599-1/fulltext.html

المؤلفون: Anderson, Jennifer A., Mickelson, James, Fast, Brandon J., Smith, Nathan, Pauli, Robert C., Walker, Carl

المساهمون: is no funding associated

المصدر: GM Crops & Food ; volume 14, issue 1, page 1-8 ; ISSN 2164-5698 2164-5701

الاتاحة: http://dx.doi.org/10.1080/21645698.2023.2208997
https://www.tandfonline.com/doi/pdf/10.1080/21645698.2023.2208997

المؤلفون: Schaefer, Robert J, Schubert, Mikkel, Bailey, Ernest, Bannasch, Danika L, Barrey, Eric, Bar-Gal, Gila Kahila, Brem, Gottfried, Brooks, Samantha A, Distl, Ottmar, Fries, Ruedi, Finno, Carrie J, Gerber, Vinzenz, Haase, Bianca, Jagannathan, Vidhya, Kalbfleisch, Ted, Leeb, Tosso, Lindgren, Gabriella, Lopes, Maria Susana, Mach, Núria, da Câmara Machado, Artur, MacLeod, James N, McCoy, Annette, Metzger, Julia, Penedo, Cecilia, Polani, Sagi, Rieder, Stefan, Tammen, Imke, Tetens, Jens, Thaller, Georg, Verini-Supplizi, Andrea, Wade, Claire M, Wallner, Barbara, Orlando, Ludovic, Mickelson, James R, McCue, Molly E

المصدر: BMC Genomics. 18(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, Animals, Gene Frequency, Genotyping Techniques, Horses, Linkage Disequilibrium, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Reference Standards, Whole Genome Sequencing, Equine genomics, Whole genome sequence, SNP-tagging, SNP chip, Variant recalibration, SNP discovery, SNP informativeness, SNP validation, Linkage disequilibrium, Information and Computing Sciences, Medical and Health Sciences, Bioinformatics, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1fw0v67x
https://escholarship.org/content/qt1fw0v67x/qt1fw0v67x.pdf

المؤلفون: Finno, Carrie J, Bordbari, Matthew H, Valberg, Stephanie J, Lee, David, Herron, Josi, Hines, Kelly, Monsour, Tamer, Scott, Erica, Bannasch, Danika L, Mickelson, James, Xu, Libin

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurodegenerative, Genetics, Biotechnology, Neurosciences, 2.1 Biological and endogenous factors, Neurological, ATP Binding Cassette Transporter 1, Animals, Apolipoproteins E, Carrier Proteins, Cholesterol 7-alpha-Hydroxylase, Female, Gene Expression Profiling, Gene Expression Regulation, Gene Ontology, Horses, Liver X Receptors, Male, Medulla Oblongata, Molecular Sequence Annotation, Mutation, Neuroaxonal Dystrophies, Phospholipid Transfer Proteins, Protein Interaction Mapping, RNA, Messenger, Receptors, Ionotropic Glutamate, Receptors, Metabotropic Glutamate, Signal Transduction, Spinal Cord, Transcription, Genetic, Transcriptome, Vitamin E Deficiency, Cholesterol, RNA-sequencing, Vitamin E, Medicinal and Biomolecular Chemistry, Biochemistry and Cell Biology, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6p84064t
https://escholarship.org/content/qt6p84064t/qt6p84064t.pdf

المؤلفون: Mickelson, James A.

الاتاحة: http://catalog.hathitrust.org/api/volumes/oclc/45262218.html

المؤلفون: Letko, Anna, Minor, Katie M., Norton, Elaine M., Marinescu, Voichita, Drögemüller, Michaela, Ivansson, Emma, Megquir, Katherine, Noh, Hyun Ji, Starkey, Mike, Friedenberg, Steven G., Lindblad-Toh, Kerstin, Mickelson, James R., Drögemüller, Cord

المصدر: Genes. 12(12)

مصطلحات موضوعية: osteosarcoma, bone cancer, canis familiaris, Leonberger, animal model, CDKN2A/B

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-461603
https://doi.org/10.3390/genes12121964
https://uu.diva-portal.org/smash/get/diva2:1620543/FULLTEXT01.pdf

المؤلفون: Andersson, Lisa S, Larhammar, Martin, Memic, Fatima, Wootz, Hanna, Schwochow, Doreen, Rubin, Carl-Johan, Patra, Kalicharan, Arnason, Thorvaldur, Wellbring, Lisbeth, Hjälm, Göran, Imsland, Freyja, Petersen, Jessica L, McCue, Molly E, Mickelson, James R, Cothran, Gus, Ahituv, Nadav, Roepstorff, Lars, Mikko, Sofia, Vallstedt, Anna, Lindgren, Gabriella, Andersson, Leif, Kullander, Klas

المصدر: Nature. 488(7413)

مصطلحات موضوعية: Veterinary Sciences, Agricultural, Veterinary and Food Sciences, Biological Sciences, Spinal Cord Injury, Bioengineering, Neurodegenerative, Genetics, Amino Acid Sequence, Animals, Codon, Nonsense, Gait, Gene Expression Profiling, Gene Frequency, Horses, Iceland, Mice, Molecular Sequence Data, Mutation, Neural Pathways, Psychomotor Performance, Spinal Cord, Transcription Factors, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8ph9b5b8