المؤلفون: Hytönen, Marjo K., Viitanen, Sanna, Hundi, Sruthi, Donner, Jonas, Lohi, Hannes, Kaukonen, Maria

المصدر: Animal Genetics; Oct2023, Vol. 54 Issue 5, p606-612, 7p

مصطلحات موضوعية: LABRADOR retriever, HEMOPHILIA, FRAMESHIFT mutation, BLOOD coagulation factor VIII, BLOOD coagulation factors, BLOOD coagulation disorders

المؤلفون: Lyons, L., Buckley, R., Harvey, R., Abitbol, Marie, Aberdein, Danielle, Alves, Paulo, Ohlsson Andersson, Asa, Bellone, Rebecca, Bergström, Tomas, Bilgen, Nuket, Boyko, Adam, Brockman, Jeffrey, Casal, Margret, Castelhano, Marta, Davis, Brian, Davison, Lucy, Distl, Ottmar, Dodman, Nicholas, Ellinwood, N. Matthew, Fogle, Jonathan, Forman, Oliver, Garrick, Dorian, Ginns, Edward, Häggström, Jens, Hasegawa, Daisuke, Haase, Bianca, Jagannathan, Vidhya, Lait, Philippa, Hernandez, Isabel, Hytönen, Marjo, Kaukonen, Maria, Kosho, Tomoki, Leclerc, Emilie, Lear, Teri, Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark, Malik, Richard, Mane, Shrinivasrao, Middleton, Rondo, Munday, John, Murphy, William, Myers, Alexandra, Pedersen, Niels, Peterson‐jones, Simon, Rothschild, Max, Rusbridge, Clare, Schoenebeck, Jeffrey, Shapiro, Beth, Stern, Joshua, Swanson, William, Terio, Karen, Todhunter, Rory, Warren, Wesley, Wilcox, Elizabeth, Wildschutte, Julia, Yu, Yoshihiko

المساهمون: VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0268-9146.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-03237807; https://vetagro-sup.hal.science/hal-03237807Test; PUBMEDCENTRAL: PMC8252059

الإتاحة: https://doi.org/10.1111/age.13059Test
https://vetagro-sup.hal.science/hal-03237807Test

المؤلفون: Mauler, D.A., Gandolfi, B., Reinero, C.R., O'Brien, D.P., Spooner, J.L., Lyons, L.A., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Beale, Holly C., Boyko, Adam R., Brockman, Jeffrey A., Castelhano, Marta G., Chan, Patricia P., Matthew Ellinwood, N., Fogle, Jonathan E., Garrick, Dorian J., Helps, Christopher R., Hytönen, Marjo K., Kaukonen, Maria

المصدر: Journal of Veterinary Internal Medicine; Mar/Apr2017, Vol. 31 Issue 2, p539-544, 6p

مصطلحات موضوعية: NIEMANN-Pick diseases, INDIVIDUALIZED medicine, HEALTH of cats, NUCLEOTIDE sequencing, MISSENSE mutation, DIAGNOSIS

المؤلفون: Krootila, Julia¹ (AUTHOR), Kaukonen, Maria^2,3 (AUTHOR), Sankila, Eeva‐Marja⁴ (AUTHOR), Paavo, Maarjaliis⁴ (AUTHOR), Seitsonen, Sanna⁴ (AUTHOR), Repo, Pauliina^1,4 (AUTHOR), Backlund, Michael P.¹ (AUTHOR), Majander, Anna⁴ (AUTHOR), Lindahl, Päivi⁴ (AUTHOR), Vasara, Kristiina⁴ (AUTHOR), Avela, Kristiina⁵ (AUTHOR), Salminen, Eveliina⁵ (AUTHOR), MacLaren, Robert E.^2,3 (AUTHOR), Kivelä, Tero T.⁴ (AUTHOR), Turunen, Joni A.^1,4 (AUTHOR)

المصدر: Acta Ophthalmologica (1755375X). 2022 Supplement 275, Vol. 100, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *RETINAL diseases, *GENETIC testing, *RETINITIS pigmentosa, *GENETIC disorder diagnosis, *UNIVERSITY hospitals, *MEDICAL registries

مصطلحات جغرافية: FINLAND

المؤلفون: Pettinen, Inka‐Tuulevi, Immonen, Annamari, Rämö, Joel, Jaakkola, Aino, Krootila, Kari, Kaukonen, Maria, Lohi, Hannes, Kivelä, Tero, Turunen, Joni

المصدر: Acta Ophthalmologica (1755375X); 2022 Supplement 275, Vol. 100, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: CORNEAL transplantation, TRINUCLEOTIDE repeats, SHORT tandem repeat analysis, CORNEAL dystrophies