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1دورية أكاديمية
المؤلفون: Ed J. Pilkington, Steven De Decker, Eleftheria Skovola, Ana Cloquell Miro, Rodrigo Gutierrez Quintana, Kiterie M. E. Faller, Albert Aguilera Padros, Rita Goncalves
المصدر: Journal of Veterinary Internal Medicine, Vol 38, Iss 3, Pp 1598-1607 (2024)
مصطلحات موضوعية: diverticulum, malformation, screw‐tail, spinal, Veterinary medicine, SF600-1100
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rachel James, Kiterie M. E. Faller, Ewout J. N. Groen, Brunhilde Wirth, Thomas H. Gillingwater
المصدر: Communications Medicine, Vol 4, Iss 1, Pp 1-6 (2024)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2730-664X
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3دورية أكاديمية
المؤلفون: Dunja Aksentijević, Sevasti Zervou, Kiterie M E Faller, Debra J McAndrew, Jurgen E Schneider, Stefan Neubauer, Craig A Lygate
المصدر: PLoS ONE, Vol 9, Iss 10, p e109021 (2014)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Kiterie M E Faller, Debra J Medway, Dunja Aksentijevic, Liam Sebag-Montefiore, Jürgen E Schneider, Craig A Lygate, Stefan Neubauer
المصدر: PLoS ONE, Vol 8, Iss 6, p e66461 (2013)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Rodrigo Gutierrez‐Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb
المصدر: Journal of Veterinary Internal Medicine, Vol 37, Iss 1, Pp 230-235 (2023)
مصطلحات موضوعية: animal model, Canis lupus familiaris, genetics, neurology, precision medicine, sodium channel, Veterinary medicine, SF600-1100
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Rodrigo Gutierrez‐Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb
المصدر: Journal of Veterinary Internal Medicine, Vol 37, Iss 3, Pp 793-793 (2023)
مصطلحات موضوعية: Veterinary medicine, SF600-1100
وصف الملف: electronic resource
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المؤلفون: Rita Guerreiro, Kiterie M. E. Faller, Angie Rupp, Jose Bras, Alison Ridyard, Rodrigo Gutierrez-Quintana, Celia Kun-Rodrigues, Tatiana Orme, Heather J. Church, Karen Tylee
المصدر: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)
Journal of Veterinary Internal Medicineمصطلحات موضوعية: Proband, medicine.medical_specialty, 040301 veterinary sciences, Mucopolysaccharidosis I, Hurler, Standard Article, 030204 cardiovascular system & hematology, medicine.disease_cause, Dermatan sulfate, Scheie, 0403 veterinary science, 03 medical and health sciences, Mucopolysaccharidosis type I, Exon, chemistry.chemical_compound, Endocrinology, Dogs, 0302 clinical medicine, Internal medicine, Genotype, medicine, Lysosomal storage disease, Animals, Dog Diseases, Sequence Deletion, Mutation, lcsh:Veterinary medicine, General Veterinary, business.industry, Homozygote, iduronidase, Exons, 04 agricultural and veterinary sciences, medicine.disease, Standard Articles, lysosomal storage disease, chemistry, lcsh:SF600-1100, SMALL ANIMAL, business, Iduronidase
وصف الملف: application/pdf
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المؤلفون: Thomas H. Gillingwater, Helena Chaytow, Yu-Ting Huang, Leire M. Ledahawsky, Anna A L Motyl, Thomas M. Wishart, Samantha L. Eaton, Kiterie M. E. Faller, Douglas J. Lamont, Ewout J N Groen, Rachel A. Kline
المصدر: Human Molecular Genetics
Motyl, A A L, Faller, K, Groen, E J N, Kline, R, Eaton, S, Ledahawsky, L, Chaytow, H, Lamont, D J, Wishart, T, Huang, Y & Gillingwater, T 2020, ' Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy ', Human Molecular Genetics, vol. 29, no. 16, pp. 2674-2683 . https://doi.org/10.1093/hmg/ddaa146مصطلحات موضوعية: Proteomics, AcademicSubjects/SCI01140, Pathology, Disease, SMN1, Pathogenesis, Mice, 0302 clinical medicine, Prenatal Diagnosis, congenital abnormality, Genetics (clinical), spinal muscular atrophy, Motor Neurons, 0303 health sciences, Brain, Heart, General Medicine, SMA, Phenotype, heart ventricle, developmental delay, medicine.anatomical_structure, Liver, General Article, microtomography, medicine.medical_specialty, mice, Neuromuscular disease, phenotype, brain, embryo, neuromuscular diseases, heart, Biology, liver, Muscular Atrophy, Spinal, 03 medical and health sciences, proteomics, perturbations, Genetics, medicine, Animals, Humans, motor neurons, Molecular Biology, 030304 developmental biology, Myocardium, X-Ray Microtomography, Spinal muscular atrophy, Motor neuron, medicine.disease, Survival of Motor Neuron 1 Protein, Disease Models, Animal, x-ray, mutation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254e0fb675dafec618503b1ba725a930
http://europepmc.org/articles/PMC7530529 -
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المؤلفون: Sally L. Ricketts, Steven G. Friedenberg, Cord Drögemüller, Claire M. Wade, Leonardo Murgiano, Jeffrey J. Schoenebeck, Christophe Hitte, Sheila M. Schmutz, C. A. Jenkins, Doreen Becker, L. De Risio, Anita M. Oberbauer, Tosso Leeb, Brian W. Davis, Kiterie M. E. Faller, Eva Furrow, Catherine Andre, Frank G. van Steenbeek, Ellen Schofield, Urs Giger, Kari J Ekenstedt, Cathryn S. Mellersh, James R. Mickelson, Gustavo Aguirre, Hannes Lohi, Marjo K. Hytönen, Danika Bannasch, Oliver P. Forman, C. S. Mellersh, Kim M. Summers, Vidhya Jagannathan
المساهمون: Jenkins, Christopher A [0000-0001-9082-4270], Apollo - University of Cambridge Repository
المصدر: Animal genetics
Animal genetics, vol 52, iss 5
Jenkins, C A, Aguirre, G, André, C, Bannasch, D, Becker, D, Davis, B, Drögemüller, C, Ekenstedt, K, Faller, K, Forman, O, Friedenberg, S, Furrow, E, Giger, U, Hitte, C, Hytönen, M, Jagannathan, V, Leeb, T, Lohi, H, Mellersh, C S, Mickelson, J R, Murgiano, L, Oberbauer, A, Schmutz, S, Schoenebeck, J J, Summers, K M, Van Steenbeek, F G, Wade, C, Schofield, E C, Mellersh, C S, De Risio, L & Ricketts, S L 2021, ' Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds ', Animal Genetics . https://doi.org/10.1111/age.13117
Jenkins, Christopher A.; Dog Biomedical Variant Database, Consortium; Schofield, Ellen C.; Mellersh, Cathryn S.; De Risio, Luisa; Ricketts, Sally L. (2021). Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds. Animal genetics, 52(5), pp. 703-713. Wiley 10.1111/age.13117 <http://dx.doi.org/10.1111/age.13117>
Animal Genetics, 52(5), 703. Wiley-Blackwellمصطلحات موضوعية: Dairy & Animal Science, Genotype, imputation accuracy, 610 Medicine & health, Single-nucleotide polymorphism, Genome-wide association study, Computational biology, Biology, Breeding, Genome, Polymorphism, Single Nucleotide, Article, Dogs, Border Collie, Genetics, Animals, Veterinary Sciences, Polymorphism, Italian Spinone, Genetic Association Studies, Genetic association, Whole genome sequencing, whole genome sequencing, genome-wide association study, Prevention, General Medicine, Single Nucleotide, Genomics, 570 Life sciences, biology, 590 Animals (Zoology), Animal Science and Zoology, Dog Biomedical Variant Database Consortium, Zoology, Imputation (genetics)
وصف الملف: application/pdf; text/xml
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المصدر: Chaytow, H, Faller, K, Huang, Y & Gillingwater, T H 2021, ' Spinal muscular atrophy : From approved therapies to future therapeutic targets for personalized medicine ', Cell Reports Medicine, vol. 2, no. 7, 100346 . https://doi.org/10.1016/j.xcrm.2021.100346
Cell Reports Medicineمصطلحات موضوعية: Genetic enhancement, RNA Splicing, Disease, Review, Bioinformatics, ubiquitination, Neuroprotection, General Biochemistry, Genetics and Molecular Biology, Muscular Atrophy, Spinal, Preclinical research, medicine, Animals, Humans, Molecular Targeted Therapy, Precision Medicine, neuromuscular junction, business.industry, apoptosis, SMN Complex Proteins, cytoskeleton, Spinal muscular atrophy, Motor neuron, medicine.disease, SMA, gene therapy, SMN, medicine.anatomical_structure, splicing modulator, Gene Targeting, neuroprotection, Personalized medicine, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fcb38127d921ce7ead22476f2208ca
https://www.pure.ed.ac.uk/ws/files/214578892/ChaytowEtAl_CellRepMed_9Jun2021_shorter_bibliography_v2.pdf