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1دورية أكاديمية
المصدر: Journal of Veterinary Internal Medicine, Vol 37, Iss 5, Pp 1716-1724 (2023)
مصطلحات موضوعية: animal models, cutaneous asthenia, dermatosparaxis, Ehlers‐Danlos syndrome, Felis catus, precision medicine, Veterinary medicine, SF600-1100
وصف الملف: electronic resource
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2دورية أكاديمية
المساهمون: Horae Gene Therapy Center, Radiology
المصدر: Journal of veterinary internal medicine ; 37 ; 5 ; 1716 ; 1724 ; United States
مصطلحات موضوعية: Ehlers-Danlos syndrome, Felis catus, animal models, cutaneous asthenia, dermatosparaxis, precision medicine, whole genome sequencing
العلاقة: Journal of Veterinary Internal Medicine; https://doi.org/10.1111/jvim.16805Test; McElroy A, Gray-Edwards H, Coghill LM, Lyons LA. Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome. J Vet Intern Med. 2023 Sep-Oct;37(5):1716-1724. doi:10.1111/jvim.16805. Epub 2023 Aug 18. PMID: 37594181; PMCID: PMC10473008.; http://hdl.handle.net/20.500.14038/52611Test
الإتاحة: https://doi.org/10.1111/jvim.16805Test
https://doi.org/20.500.14038/52611Test
https://hdl.handle.net/20.500.14038/52611Test -
3دورية أكاديمية
المؤلفون: Jaffey, J. A., Bullock, G., Teplin, E., Guo, J., Villani, N. A., Mhlanga-Mutangadura, T., Schnabel, R. D., Cohn, L. A., Johnson, G. S.
المساهمون: Veterinary Pathobiology
المصدر: Animal Genetics ; Jaffey, J.A., Bullock, G., Teplin, E., Guo, J., Villani, N.A., Mhlanga-Mutangadura, T., Schnabel, R.D., Cohn, L.A., Johnson, G.S. (2019). A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Animal Genetics, 50(5). 10.1111/age.12825 ; Source: batch harvesting
مصطلحات موضوعية: connective tissue disease, dermatosparaxis, whole genome sequence
وصف الملف: 3 pages : illustration
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4دورية أكاديمية
المؤلفون: Silva, A.P.C., Mol, J.P.S., Carvalho Junior, C.A., Paixão, T.A., Santos, R.L.
المصدر: Arquivo Brasileiro de Medicina Veterinária e Zootecnia. June 2015 67(3)
مصطلحات موضوعية: sheep, dermatosparaxis, collagen, skin
وصف الملف: text/html
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5دورية أكاديمية
المؤلفون: A.P.C. Silva, J.P.S. Mol, C.A. Carvalho Junior, T.A. Paixão, R.L. Santos
المصدر: Arquivo Brasileiro de Medicina Veterinária e Zootecnia, Vol 67, Iss 3, Pp 741-746 (2015)
مصطلحات موضوعية: ovino, dermatosparaxis, colágeno, pele, Animal culture, SF1-1100
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352015000300741&lng=en&tlng=enTest; https://doaj.org/toc/1678-4162Test
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6مؤتمر
المؤلفون: COLOMBI, Marina, Dordoni, Chiara, CHIARELLI, Nicola, Traversa, M., ZOPPI, Nicoletta, GIACOPUZZI, Edoardo, VENTURINI, Marina, FACCHETTI, Fabio, CALZAVARA PINTON, Piergiacomo, RITELLI, Marco Giuseppe
المساهمون: Colombi M., Dordoni C., Chiarelli N., Traversa M., Zoppi N., Giacopuzzi E., Venturini M., Facchetti F., Calzavara-Pinton P., Ritelli M., Colombi, Marina, Dordoni, Chiara, Chiarelli, Nicola, Traversa, M., Zoppi, Nicoletta, Giacopuzzi, Edoardo, Venturini, Marina, Facchetti, Fabio, CALZAVARA PINTON, Piergiacomo, Ritelli, Marco Giuseppe
مصطلحات موضوعية: dermatosparaxis, joint hypermobility
وصف الملف: ELETTRONICO
العلاقة: ispartofbook:European Journal of Human Genetics; European Human Genetics Conference 2015; volume:23; firstpage:97; lastpage:97; numberofpages:1; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11379/491140Test
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7دورية أكاديمية
المؤلفون: Ana Rosa Rincón-Sánchez, Irma Elia Arce, Enrique Alejandro Tostado-Rabago, Alberto Vargas, Luis Alfredo Padilla-Gómez, Alejandro Bolaños, Selenne Barrios-Guyot, Víctor Manuel Anguiano-Alvarez, Víctor Chistian Ledezma-Rodríguez, María Cristina Islas-Carbajal, Ana María Rivas-Estilla, Alfredo Feria-Velasco, Nory Omayra Dávalos
المصدر: Case Reports in Dermatology, Vol 4, Iss 1, Pp 104-113 (2012)
مصطلحات موضوعية: Ehlers-Danlos syndrome, Human dermatosparaxis, Elastic connective tissue, ADAMTS2 gene, Dermatology, RL1-803
وصف الملف: electronic resource
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8كتاب
المؤلفون: Colige, Alain
المصدر: urn:isbn:978-0123822192
Handbook of proteolytic enzymes. 3rd Edition, 1161-1166 (2013)مصطلحات موضوعية: ADAMTS, Connective tissues, Dermatosparaxis, Ehlers-Danlos syndrome, Fibrillar collagen, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire
الوصول الحر: https://orbi.uliege.be/handle/2268/163691Test
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9مؤتمر
المؤلفون: Colige, Alain
مصطلحات موضوعية: Ehlers-danlos, Dermatosparaxis, ADAMTS2, Life sciences :: Biochemistry, biophysics & molecular biology, Sciences du vivant :: Biochimie, biophysique & biologie moléculaire
جغرافية الموضوع: national
العلاقة: International Symposium on the EHLERS-DANLOS Syndrome., Gent, Belgique (du 8 au 11 septembre 2012)
الوصول الحر: https://orbi.uliege.be/handle/2268/163385Test
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10دورية أكاديميةSkin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome
مصطلحات موضوعية: PLOD1, Equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1, LH1, Lysyl hydroxylase 1, Ehlers-Danlossyndrome, Dermatosparaxis, Dermal hyperfragility, Horse, Equine, Connective tissue, Hereditary
العلاقة: https://nottingham-repository.worktribe.com/output/742088Test; BMC Veterinary Research; Volume 11; Issue 12; https://nottingham-repository.worktribe.com/file/742088/1/BMC%20vet%20res_WFFS_Monthoux%20et%20al._2015_published.pdfTest
الإتاحة: https://doi.org/10.1186/s12917-015-0318-8Test
https://nottingham-repository.worktribe.com/file/742088/1/BMC%20vet%20res_WFFS_Monthoux%20et%20al._2015_published.pdfTest
https://nottingham-repository.worktribe.com/output/742088Test
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