المؤلفون: Laffan, M., McLaughlin, P., Motwani, J., Alamelu, J., Austin, S. Classey, S., Dolan, G., Eales, M., Gooding, R., Grainger, J., Harrison, C., Jones, A., Kelly, A., Oyesiku, L., Rodgers, R., Stephensen, D., Talks, K., Sonecha, S., Danquah, A.

مصطلحات موضوعية: Delphi method, United Kingdom, Haemophilia A, Joint pain, Joints

العلاقة: https://repository.canterbury.ac.uk/download/4fe52636b36a9d9e75c4baf7fe4a15a5dbe00dbf6b997cb8f664060bbc0b8092/1232563/Haemophilia%20-%202024%20-%20Laffan%20-%20Expert%20United%20Kingdom%20consensus%20on%20the%20preservation%20of%20joint%20health%20in%20people%20with%20moderate.pdfTest; https://doi.org/10.1111/hae.14934Test

الإتاحة: https://doi.org/10.1111/hae.14934Test
https://repository.canterbury.ac.uk/item/96x30/expert-united-kingdom-consensus-on-the-preservation-of-joint-health-in-people-with-moderate-and-severe-haemophilia-a-a-modified-delphi-panelTest
https://repository.canterbury.ac.uk/download/4fe52636b36a9d9e75c4baf7fe4a15a5dbe00dbf6b997cb8f664060bbc0b8092/1232563/Haemophilia%20-%202024%20-%20Laffan%20-%20Expert%20United%20Kingdom%20consensus%20on%20the%20preservation%20of%20joint%20health%20in%20people%20with%20moderate.pdfTest

المؤلفون: Berntorp, E, Dolan, G, Hay, C, Linari, S, Santagostino, E, Tosetto, A, Castaman, G, Alvarez-Roman, M, Lopez, RP, Oldenburg, J, Albert, T, Scholz, U, Holmstrom, M, Schved, JF, Trossaert, M, Hermans, C, Boban, A, Ludlam, C, Lethagen, S

المصدر: Haemophilia : the official journal of the World Federation of Hemophilia. 23(1):105-114

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135131727Test

المؤلفون: Cortesi, PA, Fornari, C, Conti, S, Pollio, B, Boccalandro, E, Buzzi, A, Carulli, C, Coppola, A, De Cristofaro, R, Di Minno, MND, Dolan, G, Grazzi, EF, Fornari, A, Gualtierotti, R, Hermans, C, Jiménez-Juste, V, Kenet, G, Lupi, A, Martinoli, C, Mansueto, MF, Nicolò, G, Tagliaferri, A, Gringeri, A, Molinari, AC, Mantovani, LG, Castaman, G

المساهمون: Cortesi, P, Fornari, C, Conti, S, Pollio, B, Boccalandro, E, Buzzi, A, Carulli, C, Coppola, A, De Cristofaro, R, Di Minno, M, Dolan, G, Grazzi, E, Fornari, A, Gualtierotti, R, Hermans, C, Jiménez-Juste, V, Kenet, G, Lupi, A, Martinoli, C, Mansueto, M, Nicolò, G, Tagliaferri, A, Gringeri, A, Molinari, A, Mantovani, L, Castaman, G

مصطلحات موضوعية: haemophilia, outcome assessment, patient reported outcome measure, quality indicator, treatment outcome, value-based purchasing, MED/42 - IGIENE GENERALE E APPLICATA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38314918; info:eu-repo/semantics/altIdentifier/wos/WOS:001157705600001; journal:HAEMOPHILIA; https://hdl.handle.net/10281/459420Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85184272541

الإتاحة: https://doi.org/10.1111/hae.14943Test
https://hdl.handle.net/10281/459420Test

المؤلفون: Chowdary, P, Shapiro, S, Makris, M, Evans, G, Boyce, S, Talks, K, Dolan, G, Reiss, U, Phillips, M, Riddell, A, Peralta, MR, Quaye, M, Patch, DW, Tuddenham, E, Dane, A, Watissée, M, Long, A, Nathwani, A

المصدر: The New England Journal of Medicine , 387 (3) pp. 237-247. (2022)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10153268/1/nejmoa2119913.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10153268Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10153268/1/nejmoa2119913.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10153268Test/

المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135Test

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
http://hdl.handle.net/11368/2980250Test
https://academic.oup.com/jcem/article/106/2/e660/5917135Test

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700Test SGUL Authors: McEntagart, Meriel

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://openaccess.sgul.ac.uk/id/eprint/113253Test/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest

المؤلفون: Grupp, D. E., Zhang, T., Dolan, G. J., Wingreen, Ned S.

مصطلحات موضوعية: Condensed Matter - Mesoscale and Nanoscale Physics

الوصول الحر: http://arxiv.org/abs/cond-mat/9906023Test

المؤلفون: Fornari, C., Cortesi, P.A., Conti, S., Pollio, B., Boccalandro, E., Buzzi, A., Carulli, C., Coppola, A., De Cristofaro, R., Di Minno, G., Dolan, G., Ferri Grazzi, E., Fornari, A., Gualtierotti, R., Hermans, C., Jiménez-Yuste, V., Kenet, G., Lupi, A., Martinoli, C., Mansueto, M.F., Nicolò, G., Tagliaferri, A., Gringeri, A., Molinari, A.C., Mantovani, L.G., Castaman, G.

المصدر: Value in Health ; volume 26, issue 12, page S485-S486 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2023.09.2628Test
https://api.elsevier.com/content/article/PII:S1098301523057583?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301523057583?httpAccept=text/plainTest

المؤلفون: O'Mahony, B., Dolan, G., Nugent, D., Goodman, C.

المساهمون: Bayer HealthCare

المصدر: Haemophilia ; volume 24, issue 6, page 873-879 ; ISSN 1351-8216 1365-2516

الإتاحة: https://doi.org/10.1111/hae.13456Test

المؤلفون: Chowdary, P., Shapiro, S., Makris, M., Evans, G., Boyce, S., Talks, K., Dolan, G., Reiss, U., Phillips, M., Riddell, A., Peralta, M.R., Quaye, M., Patch, D.W., Tuddenham, E., Dane, A., Watissée, M., Long, A., Nathwani, A.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/189484/9/nejmoa2119913.pdfTest; https://eprints.whiterose.ac.uk/189484/1/B-AMAZE%20Supplementary%20Appendix%20Resubmission%206May.pdfTest; Chowdary, P., Shapiro, S., Makris, M. orcid.org/0000-0001-7622-7939 et al. (15 more authors) (2022) Phase 1–2 trial of AAVS3 gene therapy in patients with hemophilia B. New England Journal of Medicine, 387 (3). pp. 237-247. ISSN 0028-4793

الإتاحة: https://eprints.whiterose.ac.uk/189484Test/
https://eprints.whiterose.ac.uk/189484/9/nejmoa2119913.pdfTest
https://eprints.whiterose.ac.uk/189484/1/B-AMAZE%20Supplementary%20Appendix%20Resubmission%206May.pdfTest