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

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/6c23290987db4bc0a540e93d1e537139

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

URL الوصول: https://doaj.org/article/5252b888b4e341b0b3d33174f8d291e1

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4182806?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f1546b6aa1074079ba65d4d5420ba05b

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3688916?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/2099b823497449f68a437c195d518f2c

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

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/8fcbc6b3b8ac49f4b022cb78c957f377

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

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/a9a69be93f554c98833ed526b1c8ebad

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 Medicine

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce7a23f4302e61f241dcf94594ce389
https://doi.org/10.1111/jvim.15868

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/ddaa146

مصطلحات 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

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-Blackwell

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2deb3dcb2333357cfe21125f9e55d038

المؤلفون: Thomas H. Gillingwater, Helena Chaytow, Yu-Ting Huang, Kiterie M. E. Faller

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 Medicine

مصطلحات 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