Хайлтын үр дүнгүүд - Savige, Judith

Diagnosing Marfan's syndrome -н Savige, Judith

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The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing -н Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V

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An enhanced exercise and cognitive programme does not appear to reduce incident delirium in hospitalised patients: a randomised controlled trial -н Jeffs, Kimberley J, Berlowitz, David J, Grant, Shane, Lawlor, Vicki, Graco, Marnie, de Morton, Natalie A, Savige, Judith A, Lim, Wen K

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Vision-Threatening Retinal Abnormalities in Chronic Kidney Disease Stages 3 to 5 -н Deva, Rajeev, Alias, Mohamad Afzal, Colville, Deb, Tow, Foong Kien Newk-Fon Hey, Ooi, Qi Lun, Chew, Sky, Mohamad, Nor, Hutchinson, Anastasia, Koukouras, Ignatios, Power, David A., Savige, Judith

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The importance of clinician, patient and researcher collaborations in Alport syndrome -н Rheault, Michelle N., Savige, Judith, Randles, Michael J., Weinstock, André, Stepney, Melissa, Turner, A Neil, Parziale, Gina, Gross, Oliver, Flinter, Frances A, Miner, Jeffrey H, Lagas, Sharon, Gear, Susie, Lennon, Rachel

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Modelling X-linked Alport Syndrome With Induced Pluripotent Stem Cell-Derived Podocytes -н Lau, Ricky Wai Kiu, Fisher, Craig, Phan, Thanh Kha, Ozkocak, Dilara Ceyda, Selby, James, Saini, Sheetal, Mukundan, Sarvatha, Wise, Andrea F., Savige, Judith, Ho Poon, Ivan Ka, Haynes, John, Ricardo, Sharon D.

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Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs) -н Povey, Sue, Al Aqeel, Aida I, Cambon-Thomsen, Anne, Dalgleish, Raymond, den Dunnen, Johan T, Firth, Helen V, Greenblatt, Marc S, Barash, Carol Isaacson, Parker, Michael, Patrinos, George P, Savige, Judith, Sobrido, Maria-Jesus, Winship, Ingrid, Cotton, Richard GH

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations -н Savige, Judith, Storey, Helen, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet, Torra, Roser, Hertz, Jens Michael, Thomassen, Mads, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato

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The 2014 International Workshop on Alport Syndrome -н Miner, Jeffrey H, Baigent, Colin, Flinter, Frances, Gross, Oliver, Judge, Parminder, Kashtan, Clifford E, Lagas, Sharon, Savige, Judith, Blatt, Dave, Ding, Jie, Gale, Daniel P, Midgley, Julian P, Povey, Sue, Prunotto, Marco, Renault, Daniel, Skelding, Jules, Turner, A Neil, Gear, Susie

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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general populati... -н Voskarides, Konstantinos, Stefanou, Charalambos, Pieri, Myrtani, Demosthenous, Panayiota, Felekkis, Kyriakos, Arsali, Maria, Athanasiou, Yiannis, Xydakis, Dimitris, Stylianou, Kostas, Daphnis, Eugenios, Goulielmos, Giorgos, Loizou, Petros, Savige, Judith, Höhne, Martin, Völker, Linus A., Benzing, Thomas, Maxwell, Patrick H., Gale, Daniel P., Gorski, Mathias, Böger, Carsten, Kollerits, Barbara, Kronenberg, Florian, Paulweber, Bernhard, Zavros, Michalis, Pierides, Alkis, Deltas, Constantinos

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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome -н Gross, Oliver, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra, Roser, Ars, Elisabet, Deltas, Constantinos, Savva, Isavella, Perin, Laura, Renieri, Alessandra, Ariani, Francesca, Mari, Francesca, Baigent, Colin, Judge, Parminder, Knebelman, Bertrand, Heidet, Laurence, Lagas, Sharon, Blatt, Dave, Ding, Jie, Zhang, Yanqin, Gale, Daniel P., Prunotto, Marco, Xue, Yong, Schachter, Asher D., Morton, Lori C.G., Blem, Jacqui, Huang, Michael, Liu, Shiguang, Vallee, Sebastien, Renault, Daniel, Schifter, Julia, Skelding, Jules, Gear, Susie, Friede, Tim, Turner, A. Neil, Lennon, Rachel

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Planning the Human Variome Project: The Spain Report() -н Kaput, Jim, Cotton, Richard G. H., Hardman, Lauren, Al Aqeel, Aida I., Al-Aama, Jumana Y., Al-Mulla, Fahd, Aretz, Stefan, Auerbach, Arleen D., Axton, Myles, Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Blöcker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calzone, Rita, Cambon-Thomsen, Anne, Cargill, Michele, Carrera, Paola, Cavedon, Lawrence, Cho, Yoon Shin, Chung, Yeun-Jun, Claustres, Mireille, Cutting, Garry, Dalgleish, Raymond, den Dunnen, Johan T., Díaz, Carlos, Dobrowolski, Steven, dos Santos, M. Rosário N., Ekong, Rosemary, Flanagan, Simon B., Flicek, Paul, Furukawa, Yoichi, Genuardi, Maurizio, Ghang, Ho, Golubenko, Maria V., Greenblatt, Marc S., Hamosh, Ada, Hancock, John M., Hardison, Ross, Harrison, Terence M., Hoffmann, Robert, Horaitis, Rania, Howard, Heather J., Barash, Carol Isaacson, Izagirre, Neskuts, Jung, Jongsun, Kojima, Toshio, Laradi, Sandrine, Lee, Yeon-Su, Lee, Jong-Young, Gil-da-Silva-Lopes, Vera L., Macrae, Finlay A., Maglott, Donna, Marafie, Makia J., Marsh, Steven G.E., Matsubara, Yoichi, Messiaen, Ludwine M., Möslein, Gabriela, Netea, Mihai G., Norton, Melissa L., Oefner, Peter J., Oetting, William S., O’Leary, James C., de Ramirez, Ana Maria Oller, Paalman, Mark H., Parboosingh, Jillian, Patrinos, George P., Perozzi, Giuditta, Phillips, Ian R., Povey, Sue, Prasad, Suyash, Qi, Ming, Quin, David J., Ramesar, Rajkumar S., Richards, C. Sue, Savige, Judith, Scheible, Dagmar G., Scott, Rodney J., Seminara, Daniela, Shephard, Elizabeth A., Sijmons, Rolf H., Smith, Timothy D., Sobrido, María-Jesús, Tanaka, Toshihiro, Tavtigian, Sean V., Taylor, Graham R., Teague, Jon, Töpel, Thoralf, Ullman-Cullere, Mollie, Utsunomiya, Joji, van Kranen, Henk J., Vihinen, Mauno, Watson, Michael, Webb, Elizabeth, Weber, Thomas K., Yeager, Meredith, Yeom, Young I., Yim, Seon-Hee, Yoo, Hyang-Sook

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