المؤلفون: Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., de Bruijn, S.E., Reurink, J., Boonen, E.G.M., Khan, M.I., Ali, M., Andreasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M., de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C.F., Karali, M., Kjellstrom, U., Koenekoop, R., de Koning, B., Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., de la Rua, E.R., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A.A.H.J., Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, V.J.M., van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, F.P.M., Roosing, S.

المصدر: Panneman , D M , Hitti-Malin , R J , Holtes , L K , de Bruijn , S E , Reurink , J , Boonen , E G M , Khan , M I , Ali , M , Andreasson , S , De Baere , E , Banfi , S , Bauwens , M , Ben-Yosef , T , Bocquet , B , De Bruyne , M , de la Cerda , B , Coppieters , F , Farinelli , P , Guignard , T , Inglehearn , C F , Karali , M , Kjellstrom , ....

مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, RETINAL DYSTROPHY, MUTATIONS, VARIANTS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f8ce5e41-6786-4d77-9c3d-5752efcc5b90
https://doi.org/10.3389/fcell.2023.1112270

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Tran, HV, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf; Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

الاتاحة: https://eprints.whiterose.ac.uk/196829/
https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Viet Tran, H, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

Relation: Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2022) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [Preprint - Cold Spring Harbor Laboratory]

الاتاحة: https://eprints.whiterose.ac.uk/197565/
https://doi.org/10.1101/2022.11.24.22282656

المؤلفون: Atzmony, L., Zagairy, F., Tatour, Y., Danial-Farran, N., Dodiuk-Gad, R., Barak, E. Cohen

المصدر: Journal of Investigative Dermatology; August 2024, Vol. 144 Issue: 8, Number 8 Supplement 1 pS71-S71, 1p