المؤلفون: McHugh, DMS, Cameron, CA, Abdenur, JE, Abdulrahman, M, Adair, O, Al Nuaimi, SA, Ahlman, H, Allen, JJ, Antonozzi, I, Archer, S, Au, S, Auray-Blais, C, Baker, M, Bamforth, F, Beckmann, K, Pino, GB, Berberich, SL, Binard, R, Boemer, F, Bonham, J, Breen, NN, Bryant, SC, Caggana, M, Caldwell, SG, Camilot, M, Campbell, C, Carducci, C, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, AM, Ramos, DEC, Chakraborty, P, Chandrasekar, R, Ramos, AC, Cheillan, D, Chien, YH, Childs, TA, Chrastina, P, Sica, YC, de Juan, JAC, Colandre, ME, Espinoza, VC, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, de Sain-Van der Velden, MG, Pecellin, CD, Di Gangi, IM, Di Stefano, CM, Dotsikas, Y, Downing, M, Downs, SM, Dy, B, Dymerski, M, Rueda, I, Elvers, B, Eaton, R, Eckerd, BM, El Mougy, F, Eroh, S, Espada, M, Evans, C, Fawbush, S, Fijolek, KF, Fisher, L, Franzson, L, Frazier, DM, Garcia, LRC, Bermejo, MSGV, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, YG, Greed, LC, Grier, R, Grycki, E, Gu, XF, Gulamali-Majid, F, Hagar, AF, Han, LS, Hannon, WH, Haslip, C, Hassan, FA, He, MA, Hietala, A, Himstedt, L, Hoffman, GL, Hoffman, W, Hoggatt, P, Hopkins, PV, Hougaard, DM, Hughes, K, Hunt, PR, Hwu, WL, Hynes, J, Ibarra-Gonzalez, I, Ingham, CA, Ivanova, M, Jacox, WB, John, C, Johnson, JP, Jonsson, JJ, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kozich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, la Marca, G, Lavochkin, M, Lee, SY, Lehotay, DC, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd-Puryear, MA, Lorey, F, Loukas, YL, Luedtke, J, Maffitt, N, Magee, JF, Manning, A, Manos, S, Marie, S, Hadachi, SM, Marquardt, G, Martin, SJ, Matern, D, Gibson, SKM, Mayne, P, McCallister, TD, McCann, M, McClure, J, McGill, JJ, McKeever, CD, McNeilly, B, Morrissey, MA, Moutsatsou, P, Mulcahy, EA, Nikoloudis, D, Norgaard-Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, SP, Park, HD, Pasquali, M, Pasquini, E, Patel, P, Pass, KA, Peterson, C, Pettersen, RD, Pitt, JJ, Poh, S, Pollak, A, Porter, C, Poston, PA, Price, RW, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, JE, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, JD, Roberts, A, Rocha, H, Roche, G, Greenberg, CR, Mellado, JME, Juan-Fita, MJ, Ruiz, C, Ruoppolo, M, Rutledge, SL, Ryu, EJ, Saban, C, Sahai, I, Garcia-Blanco, MIS, Santiago-Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, MR, Seeterlin, MA, Sesser, DE, Sevier, DW, Shone, SM, Sinclair, G, Skrinska, VA, Stanley, EL, Strovel, ET, Jones, ALS, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, JR, Tomashitis, K, Domingos, MT, Torres, J, Torres, R, Tortorelli, S, Turi, S, Turner, K, Tzanakos, N, Valiente, AG, Vallance, H, Vela-Amieva, M, Vilarinho, L, von Dobeln, U, Vincent, MF, Vorster, BC, Watson, MS, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, SK, Willis, SA, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, Zakowicz, WM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 13(3):230-254

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122005782

المؤلفون: Shih, STF, Keller, E, Wiley, V, Wong, M, Farrar, MA, Chambers, GM

المصدر: urn:ISSN:2409-515X ; International Journal of Neonatal Screening, 8, 3, 44

مصطلحات موضوعية: 32 Biomedical and Clinical Sciences, 3801 Applied Economics, 38 Economics, 5204 Cognitive and Computational Psychology, 52 Psychology, Health Services, Cost Effectiveness Research, Comparative Effectiveness Research, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Transplantation, Prevention, Burden of Illness, Clinical Research, Pediatric, 3 Good Health and Well Being, Markov model, SCID, cost-effectiveness, newborn screening, anzsrc-for: 32 Biomedical and Clinical Sciences, anzsrc-for: 3801 Applied Economics, anzsrc-for: 38 Economics, anzsrc-for: 5204 Cognitive and Computational Psychology, anzsrc-for: 52 Psychology

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_81013; https://doi.org/10.3390/ijns8030044

الاتاحة: http://hdl.handle.net/1959.4/unsworks_81013
https://unsworks.unsw.edu.au/bitstreams/68e2c852-1913-4eb6-be51-5b5afe4bd9b0/download
https://doi.org/10.3390/ijns8030044

المؤلفون: Shih, STF, Keller, E, Wiley, V, Farrar, MA, Wong, M, Chambers, GM

المصدر: urn:ISSN:2409-515X ; International Journal of Neonatal Screening, 8, 3, 45

مصطلحات موضوعية: 38 Economics, 32 Biomedical and Clinical Sciences, 3801 Applied Economics, Genetic Testing, Comparative Effectiveness Research, Neurosciences, Cost Effectiveness Research, Rare Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Neurodegenerative, Infant Mortality, Genetics, Transplantation, Prevention, Health Services, Spinal Muscular Atrophy, Clinical Research, Pediatric, 8.2 Health and welfare economics, 3 Good Health and Well Being, Markov model, SCID, SMA, budget impact analysis, cost-effectiveness, newborn screening, anzsrc-for: 38 Economics, anzsrc-for: 32 Biomedical and Clinical Sciences, anzsrc-for: 3801 Applied Economics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_81005; https://doi.org/10.3390/ijns8030045

الاتاحة: http://hdl.handle.net/1959.4/unsworks_81005
https://unsworks.unsw.edu.au/bitstreams/d8da48ef-bb85-4f2a-a0eb-e72af09a92f6/download
https://doi.org/10.3390/ijns8030045

المؤلفون: Huynh, T, Greaves, R, Mawad, N, Greed, L, Wotton, T, Wiley, V, Ranieri, E, Rankin, W, Ungerer, J, Price, R, Webster, D, Heather, N

Relation: pii: cclm-2022-0403; Huynh, T., Greaves, R., Mawad, N., Greed, L., Wotton, T., Wiley, V., Ranieri, E., Rankin, W., Ungerer, J., Price, R., Webster, D. & Heather, N. (2022). Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 60 (10), pp.1551-1561. https://doi.org/10.1515/cclm-2022-0403.; http://hdl.handle.net/11343/322123

الاتاحة: http://hdl.handle.net/11343/322123

المؤلفون: Hélène E. Aschmann, Milo A. Puhan, Craig W. Robbins, Elizabeth A. Bayliss, Wiley V. Chan, Richard A. Mularski, Renée F. Wilson, Wendy L. Bennett, Orla C. Sheehan, Tsung Yu, Henock G. Yebyo, Bruce Leff, Heather Tabano, Karen Armacost, Carol Glover, Katie Maslow, Suzanne Mintz, Cynthia M. Boyd

المصدر: Health and Quality of Life Outcomes, Vol 17, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Patient preferences, Multiple chronic conditions, Hypertension, Outcome preferences, Best-worst scaling, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1477-7525

URL الوصول: https://doaj.org/article/1e624d606fab47e4b2034bff6a9ea704

المؤلفون: Kariyawasam, DST, D'Silva, AM, Vetsch, J, Wakefield, CE, Wiley, V, Farrar, MA

المصدر: urn:ISSN:2589-5370 ; EClinicalMedicine, 33, 100742

مصطلحات موضوعية: 4203 Health Services and Systems, 42 Health Sciences, Neurodegenerative, Prevention, Rare Diseases, Health Services, Clinical Research, Spinal Muscular Atrophy, Pediatric, Neurosciences, 3 Good Health and Well Being, anzsrc-for: 4203 Health Services and Systems, anzsrc-for: 42 Health Sciences, anzsrc-for: 3202 Clinical sciences, anzsrc-for: 4206 Public health

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_78238; https://doi.org/10.1016/j.eclinm.2021.100742

الاتاحة: http://hdl.handle.net/1959.4/unsworks_78238
https://unsworks.unsw.edu.au/bitstreams/e5a01e59-ad2f-4e58-8a9d-31af2385e87e/download
https://doi.org/10.1016/j.eclinm.2021.100742

المؤلفون: Shih, STF, Farrar, MA, Wiley, V, Chambers, G

المصدر: urn:ISSN:0022-3050 ; urn:ISSN:1468-330X ; Journal of Neurology, Neurosurgery and Psychiatry, 92, 12, 1296-1304

مصطلحات موضوعية: 32 Biomedical and Clinical Sciences, 3209 Neurosciences, 3202 Clinical Sciences, Rare Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Clinical Research, Neurodegenerative, Genetics, Cost Effectiveness Research, Biotechnology, Gene Therapy, Spinal Muscular Atrophy, Genetic Testing, Neurosciences, Comparative Effectiveness Research, Health Services, 3 Good Health and Well Being, Biological Products, Cost-Benefit Analysis, Female, Humans, Infant, Newborn, Male, Muscular Atrophy, Spinal, Neonatal Screening, Oligonucleotides, Recombinant Fusion Proteins

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_77142

الاتاحة: http://hdl.handle.net/1959.4/unsworks_77142
https://unsworks.unsw.edu.au/bitstreams/74030e0e-373b-42a8-97ed-8a89ab0c4c54/download
https://doi.org/10.1136/jnnp-2021-326344

المؤلفون: Kariyawasam, DST, Russell, JS, Wiley, V, Alexander, IE, Farrar, MA

المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 22, 3, 557-565

مصطلحات موضوعية: Perinatal Period - Conditions Originating in Perinatal Period, Prevention, Pediatric, Rare Diseases, Pediatric Research Initiative, Neurodegenerative, Spinal Muscular Atrophy, Health Services, Clinical Research, 3 Good Health and Well Being, Australia, Female, Genetic Testing, Humans, Infant, Newborn, Male, Muscular Atrophy, Spinal, Neonatal Screening, Parents, implementation, newborn screening, presymptomatic, translation, anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences

Relation: http://hdl.handle.net/1959.4/unsworks_61857; https://doi.org/10.1038/s41436-019-0673-0

الاتاحة: http://hdl.handle.net/1959.4/unsworks_61857
https://doi.org/10.1038/s41436-019-0673-0

المؤلفون: Aschmann, Hélène E., Boyd, Cynthia M., Robbins, Craig W., Chan, Wiley V., Mularski, Richard A., Bennett, Wendy L., Sheehan, Orla C., Wilson, Renée F., Bayliss, Elizabeth A., Leff, Bruce, Armacost, Karen, Glover, Carol, Maslow, Katie, Mintz, Suzanne, Puhan, Milo A.

المساهمون: Béatrice Ederer-Weber Stiftung, Patient-Centered Outcomes Research Institute

المصدر: Value in Health ; volume 23, issue 5, page 616-624 ; ISSN 1098-3015

الاتاحة: http://dx.doi.org/10.1016/j.jval.2019.11.007
https://api.elsevier.com/content/article/PII:S1098301520300802?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098301520300802?httpAccept=text/plain

المؤلفون: Bruce Leff, Milo A Puhan, Hélène E Aschmann, Cynthia M Boyd, Craig W Robbins, Richard A Mularski, Wiley V Chan, Orla C Sheehan, Renée F Wilson, Wendy L Bennett, Elizabeth A Bayliss, Tsung Yu, Karen Armacost, Carol Glover, Katie Maslow, Suzanne Mintz

المصدر: BMJ Open, Vol 9, Iss 8 (2019)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/9/8/e028438.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/6fe6077167484acab104da61e0543495

المؤلفون: White, S, Mossfield, T, Fleming, J, Barlow-Stewart, K, Ghedia, S, Dickson, R, Richards, F, Bombard, Y, Wiley, V

مصطلحات الفهرس: 0604 Genetics, 1103 Clinical Sciences, Journal Article

URL: http://hdl.handle.net/10453/172943
Eur J Hum Genet
10.1038/s41431-023-01311-1

المؤلفون: Aschmann, Hélène E, Boyd, Cynthia M, Robbins, Craig W, Mularski, Richard A, Chan, Wiley V, Sheehan, Orla C, Wilson, Renée F, Bennett, Wendy L, Bayliss, Elizabeth A, Yu, Tsung, Leff, Bruce, Armacost, Karen, Glover, Carol, Maslow, Katie, Mintz, Suzanne, Puhan, Milo A

المصدر: Aschmann, Hélène E; Boyd, Cynthia M; Robbins, Craig W; Mularski, Richard A; Chan, Wiley V; Sheehan, Orla C; Wilson, Renée F; Bennett, Wendy L; Bayliss, Elizabeth A; Yu, Tsung; Leff, Bruce; Armacost, Karen; Glover, Carol; Maslow, Katie; Mintz, Suzanne; Puhan, Milo A (2019). Balance of benefits and harms of different blood pressure targets in people with multiple chronic conditions: a quantitative benefit-harm assessment. BMJ Open, 9(8):e028438.

مصطلحات موضوعية: Epidemiology, Biostatistics and Prevention Institute (EBPI), 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/175189/1/Balance-Aschmann.pdf; info:pmid/31471435; urn:issn:2044-6055

الاتاحة: https://www.zora.uzh.ch/id/eprint/175189/
https://bmjopen.bmj.com/content/bmjopen/9/8/e028438.full.pdf

المؤلفون: Estrella J, Wiley V, Simmons D, Hng TM, McLean M

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::567beb6923942b1abdb9f8e9fa272cfe
https://doi.org/10.1530/ey.19.2.23

المؤلفون: Chan, Wiley V., Pearson, Thomas A., Bennett, Glen C., Cushman, William C., Gaziano, Thomas A., Gorman, Paul N., Handler, Joel, Krumholz, Harlan M., Kushner, Robert F., MacKenzie, Thomas D., Sacco, Ralph L., Smith, Sidney C., Stevens, Victor J., Wells, Barbara L., Castillo, Graciela, Heil, Susan K.R., Stephens, Jennifer, Jacobson Vann, Julie C.

المصدر: Circulation ; volume 135, issue 9 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/cir.0000000000000481
https://www.ahajournals.org/doi/full/10.1161/CIR.0000000000000481

المؤلفون: Chan, Wiley V., Pearson, Thomas A., Bennett, Glen C., Cushman, William C., Gaziano, Thomas A., Gorman, Paul N., Handler, Joel, Krumholz, Harlan M., Kushner, Robert F., MacKenzie, Thomas D., Sacco, Ralph L., Smith, Sidney C., Stevens, Victor J., Wells, Barbara L.

المصدر: Journal of the American College of Cardiology ; volume 69, issue 8, page 1076-1092 ; ISSN 0735-1097

الاتاحة: http://dx.doi.org/10.1016/j.jacc.2016.11.004
https://api.elsevier.com/content/article/PII:S0735109716368322?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0735109716368322?httpAccept=text/plain

المؤلفون: Ferreira C. R., Rahman S., Keller M., Zschocke J., Abdenur J., Ali H., Artuch R., Ballabio A., Barshop B., Baumgartner M., Bertini E. S., Blau N., Carelli V., Carroll C., Chinnery P. F., Christodoulou J., Cornejo V., Darin N., Derks T., Diodato D., Dionisi-Vici C., Duley J. A., Fukao T., Garcia-Cazorla A., Giugliani R., Goldstein A., Hoffmann G., Horvath R., Ibarra I., Inwood A., Jaeken J., Jimenez-Mallebrera C., Karaa A., Klopstock T., Kolker S., Kornblum C., Kozich V., Lamperti C., Larsson N. -G., Lemes A., Lewis B., Mancuso M., McFarland R., Mochel F., Montoya J., Morava E., Naess K., Okuyama T., Olry A., Paquis-Flucklinger V., Parikh S., Patterson M., Perez de Ferran C., Peters V., Prokisch H., Saada A., Salomons G. S., Saudubray J. -M., Scarpa M., Schara-Schmidt U., Schiff M., Servidei S., Smeitink J., Suomalainen A., Tangeraas T., Taylor R. W., Thiele I., Thorburn D., Van Hove J., Van der Ploeg A. T., Van Karnebeek C., Visser G., Vockley J., Wanders R., Webster D., Wedell A., Wiley V., Wredenberg A., Zeviani M.

المساهمون: Ferreira, C. R., Rahman, S., Keller, M., Zschocke, J., Abdenur, J., Ali, H., Artuch, R., Ballabio, A., Barshop, B., Baumgartner, M., Bertini, E. S., Blau, N., Carelli, V., Carroll, C., Chinnery, P. F., Christodoulou, J., Cornejo, V., Darin, N., Derks, T., Diodato, D., Dionisi-Vici, C., Duley, J. A., Fukao, T., Garcia-Cazorla, A., Giugliani, R., Goldstein, A., Hoffmann, G., Horvath, R., Ibarra, I., Inwood, A., Jaeken, J., Jimenez-Mallebrera, C., Karaa, A., Klopstock, T., Kolker, S., Kornblum, C., Kozich, V., Lamperti, C., Larsson, N. -G., Lemes, A., Lewis, B., Mancuso, M., Mcfarland, R., Mochel, F., Montoya, J., Morava, E., Naess, K., Okuyama, T., Olry, A., Paquis-Flucklinger, V., Parikh, S., Patterson, M., Perez de Ferran, C., Peters, V., Prokisch, H., Saada, A., Salomons, G. S., Saudubray, J. -M., Scarpa, M., Schara-Schmidt, U., Schiff, M., Servidei, S., Smeitink, J., Suomalainen, A., Tangeraas, T., Taylor, R. W., Thiele, I., Thorburn, D., Van Hove, J., Van der Ploeg, A. T., Van Karnebeek, C., Visser, G., Vockley, J., Wanders, R., Webster, D., Wedell, A., Wiley, V., Wredenberg, A., Zeviani, M.

مصطلحات موضوعية: classification, ICIMD, inherited metabolic disorder, ontology

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000614037700017; volume:44; issue:1; firstpage:164; lastpage:177; numberofpages:14; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11577/3486184; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101896221

الاتاحة: https://hdl.handle.net/11577/3486184
https://doi.org/10.1002/jimd.12348

المؤلفون: Alodaib, A, Carpenter, K, Wiley, V, Sim, K, Christodoulou, J, Wilcken, B

المصدر: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine ; volume 48, issue 5, page 468-470 ; ISSN 0004-5632 1758-1001

الاتاحة: https://doi.org/10.1258/acb.2011.010283
https://journals.sagepub.com/doi/pdf/10.1258/acb.2011.010283
https://journals.sagepub.com/doi/full-xml/10.1258/acb.2011.010283

المؤلفون: Khalid, J. M., Oerton, J., Besley, G., Dalton, N., Downing, M., Green, A., Henderson, M., Krywawych, S., Wiley, V., Wilcken, B., Dezateux, C.

المصدر: Clinical Chemistry ; volume 56, issue 6, page 1015-1021 ; ISSN 0009-9147 1530-8561

الاتاحة: http://dx.doi.org/10.1373/clinchem.2010.143891

المؤلفون: Middleton, P.G., McLean, A., Wiley, V., Wilcken, B.

المصدر: Journal of Cystic Fibrosis ; volume 5, page S58 ; ISSN 1569-1993

الاتاحة: http://dx.doi.org/10.1016/s1569-1993(06)80226-2
https://api.elsevier.com/content/article/PII:S1569199306802262?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1569199306802262?httpAccept=text/plain

المؤلفون: Barnes, J. W., Wiley, V. D., Moore, James T., Ryer, David M.

المصدر: Faculty Publications

مصطلحات موضوعية: Aerial refueling, Military logistics, Operational Research

Relation: https://scholar.afit.edu/facpub/341; https://www.sciencedirect.com/science/article/pii/S0895717704905444/pdf?md5=b1b44a59e8959b6ea159a71fa65dc44f&pid=1-s2.0-S0895717704905444-main.pdf

الاتاحة: https://scholar.afit.edu/facpub/341
https://doi.org/10.1016/S0895-7177(04)90544-4
https://www.sciencedirect.com/science/article/pii/S0895717704905444/pdf?md5=b1b44a59e8959b6ea159a71fa65dc44f&pid=1-s2.0-S0895717704905444-main.pdf