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1دورية أكاديمية
المؤلفون: Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Murray, Kevin, Peters, Heidi, Ketteridge, David, Inwood, Anita, Lee, Joy, Ellaway, Carolyn, Owens, Penny, Wong, Melanie, Ly, Christine, McGill, Jim
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2020 8
مصطلحات موضوعية: efficacy, elosulfase alfa, enzyme replacement therapy, mucopolysaccharidosis IVA, Morquio A syndrome, safety
وصف الملف: text/html
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2دورية أكاديمية
المؤلفون: Peters, Heidi, Neil, Elizabeth, Winkelmann, Zachary, Eberman, Lindsey
المصدر: Journal of Sports Medicine and Allied Health Sciences: Official Journal of the Ohio Athletic Trainers' Association, Vol 5, Iss 2 (2019)
مصطلحات موضوعية: Medicine, Sports medicine, RC1200-1245
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia
المصدر: In Genetics in Medicine June 2023 25(6)
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4دورية أكاديميةSeverely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1
المؤلفون: Castiblanco, Daniela *, Rudd-Schmidt, Jesse A. *, Noori, Tahereh, Sutton, Vivien R., Hung, Ya Hui, Flinsenberg, Thijs W.H., Hodel, Adrian W., Young, Neil D., Smith, Nicholas, Bratkovic, Drago, Peters, Heidi, Walterfang, Mark, Trapani, Joseph A., Brennan, Amelia J., Voskoboinik, Ilia *
المصدر: In Blood 24 March 2022 139(12):1833-1849
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5دورية أكاديمية
المؤلفون: Ng, Bobby G, Shiryaev, Sergey A, Rymen, Daisy, Eklund, Erik A, Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E, Alehan, Fusun, Midro, Alina T, Bamshad, Michael J, Barone, Rita, Berry, Gerard T, Brumbaugh, Jane E, Buckingham, Kati J, Clarkson, Katie, Cole, F Sessions, O'Connor, Shawn, Cooper, Gregory M, Coster, Rudy, Demmer, Laurie A, Diogo, Luisa, Fay, Alexander J, Ficicioglu, Can, Fiumara, Agata, Gahl, William A, Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A, He, Miao, Jaeken, Jaak, James, Philip M, Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J, Lachlan, Katherine, Lam, Christina, Yaplito‐Lee, Joy, Nickerson, Deborah A, Peters, Heidi L, Race, Valerie, Régal, Luc, Rush, Jeffrey S, Rutledge, S Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E, Trapane, Pamela, Sanchez‐Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J, Wang, Raymond Y, Wolfe, Lynne A, Wong, Derek A, Wood, Tim, Yang, Amy C, Genomics, University of Washington Center for Mendelian, Matthijs, Gert, Freeze, Hudson H
المصدر: Human Mutation. 37(7)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Clinical Research, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Congenital Disorders of Glycosylation, Female, Genes, Lethal, Glycosylation, Humans, Male, Mannosyltransferases, Mutation, Polysaccharides, Sequence Analysis, DNA, Survival Analysis, CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5bt1h53p
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6دورية أكاديمية
المؤلفون: Hastings, Caroline A., Goker-Alpan, Ozlem, Pena, Loren, Bayarri, Jordi Gascon, Martin-Hernandez, Elena, Sharma, Reena, Chacham, Orna Staretz, Spiegel, Ronen, Mengel, Eugen, Walterfang, Mark, Peters, Heidi, Fung, Victor S., Kiec-Wilk, Beata, Smith, Nicholas, Giugliani, Roberto, Guelbert, Norberto, Ezgu, Fatih, Ucar, Sema Kalkan, Murray, Bryan J., Brecht, Andreas F., Mejia, Joseph
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)
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7مورد إلكتروني
المؤلفون: Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., Wortmann, S.B.
المصدر: Genetics in Medicine; 1098-3600; 6; 25; 100314; ~Genetics in Medicine~~~~~1098-3600~6~25~~100314
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8دورية أكاديمية
المؤلفون: Case, Laura E., Bjartmar, Carl, Morgan, Claire, Casey, Robin, Charrow, Joel, Clancy, John P., Dasouki, Majed, DeArmey, Stephanie, Nedd, Khan, Nevins, Mary, Peters, Heidi, Phillips, Dawn, Spigelman, Zachary, Tifft, Cynthia, Kishnani, Priya S. *
المصدر: In Neuromuscular Disorders April 2015 25(4):321-332
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9دورية أكاديمية
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10دورية أكاديمية
المؤلفون: Pitt, James J., Peters, Heidi, Boneh, Avihu, Yaplito-Lee, Joy, Wieser, Stefanie, Hinderhofer, Katrin, Johnson, David, Zschocke, Johannes
المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. May 2015 38(3):459-466