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1دورية أكاديمية
المؤلفون: Martin T Christian, Nicholas JA Webb, Rebecca L Woolley, Nafsika Afentou, Samir Mehta, Emma Frew, Elizabeth A Brettell, Adam R Khan, David V Milford, Detlef Bockenhauer, Moin A Saleem, Angela S Hall, Ania Koziell, Heather Maxwell, Shivaram Hegde, Eric R Finlay, Rodney D Gilbert, Caroline Jones, Karl McKeever, Wendy Cook, Natalie Ives
المصدر: Health Technology Assessment, Vol 26, Iss 3 (2022)
مصطلحات موضوعية: nephrotic syndrome, corticosteroid, prednisolone, relapse, upper respiratory tract infection, urti, health economic, cost-effectiveness, Medical technology, R855-855.5
وصف الملف: electronic resource
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المؤلفون: Nafsika, Afentou, Emma, Frew, Samir, Mehta, Natalie J, Ives, Rebecca L, Woolley, Elizabeth A, Brettell, Adam R, Khan, David V, Milford, Detlef, Bockenhauer, Moin A, Saleem, Angela S, Hall, Ania, Koziell, Heather, Maxwell, Shivaram, Hegde, Eric, Finlay, Rodney D, Gilbert, Caroline, Jones, Karl, McKeever, Wendy, Cook, Nicholas J A, Webb, Martin T, Christian, Annette, Bolger Team
المصدر: PharmacoEconomics - Open. 6:605-617
مصطلحات موضوعية: Pharmacology, Health Policy, Pharmacology (medical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d2e5a8e5befca745d1fb5b4812455dTest
https://doi.org/10.1007/s41669-022-00334-6Test -
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المؤلفون: Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb49229427ab5933883f14a92555dc5aTest
https://doi.org/10.1038/s41431-023-01288-xTest -
4دورية أكاديمية
المؤلفون: Heon Yung Gee, Carolin E. Sadowski, Pardeep K. Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G. T. Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun C. Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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المؤلفون: Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis
المصدر: Am J Hum Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, medicine.medical_specialty, Nephrotic Syndrome, Developmental Disabilities, 030232 urology & nephrology, Neurogenetics, Nerve Tissue Proteins, Biology, Kidney, Cell Line, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, Focal segmental glomerulosclerosis, Report, Exome Sequencing, Genetics, medicine, Animals, Humans, Child, Exome, Genetics (clinical), Exome sequencing, Epilepsy, Glomerulosclerosis, Focal Segmental, Podocytes, medicine.disease, 3. Good health, Phenotype, 030104 developmental biology, Codon, Nonsense, Child, Preschool, Mutation, Medical genetics, Female, Intranuclear Space, Carrier Proteins, Nephrotic syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7969111fa124c459f42b18f37374a18Test
https://doi.org/10.1016/j.ajhg.2021.01.008Test -
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المؤلفون: Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
المساهمون: Savige, J, Lipska-Zietkiewicz, B, Watson, E, Hertz, Jm, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, Dg, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, Hm, Hoefele, J, Zacchia, M, Martic, Tn, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H, Flinter, F., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA KG Lab Centraal Lab (9)
المصدر: Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321Testمصطلحات موضوعية: Feature, Collagen Type IV, KIDNEY-TRANSPLANTATION, RENAL-FAILURE, MICROSCOPIC HEMATURIA, Epidemiology, Nephritis, Hereditary, Alport syndrome, COL4A3, COL4A4, COL4A5, FSGS, collagen IV, digenic Alport syndrome, genetic testing, kidney cysts, thin basement membrane nephropathy, Critical Care and Intensive Care Medicine, urologic and male genital diseases, Autoantigens, DIGENIC INHERITANCE, SEQUENCE VARIANTS, Humans, GENOTYPE-PHENOTYPE CORRELATIONS, Transplantation, urogenital system, COL4A3/COL4A4 MUTATIONS, GLOMERULAR-BASEMENT-MEMBRANE, NATURAL-HISTORY, female genital diseases and pregnancy complications, Nephrology, Practice Guidelines as Topic, FAMILIAL HEMATURIA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0851184c2730de09da5d744112eb31e8Test
https://www.bib.irb.hr/1197195Test -
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المؤلفون: Martin T. Christian, Nicholas J. A. Webb, Samir Mehta, Rebecca L. Woolley, Nafsika Afentou, Emma Frew, Elizabeth A. Brettell, Adam R. Khan, David V. Milford, Detlef Bockenhauer, Moin A. Saleem, Angela S. Hall, Ania Koziell, Heather Maxwell, Shivaram Hegde, Hitesh Prajapati, Rodney D. Gilbert, Caroline Jones, Karl McKeever, Wendy Cook, Natalie Ives
المصدر: Christian, M T, Webb, N J A, Mehta, S, Woolley, R L, Afentou, N, Frew, E, Brettell, E A, Khan, A R, Milford, D V, Bockenhauer, D, Saleem, M A, Hall, A S, Koziell, A, Maxwell, H, Hegde, S, Prajapati, H, Gilbert, R D, Jones, C, McKeever, K, Cook, W & Ives, N 2021, ' Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome : The PREDNOS 2 Randomized Clinical Trial ', JAMA Pediatrics . https://doi.org/10.1001/jamapediatrics.2021.5189Test
JAMA Pediatricsمصطلحات موضوعية: Male, Evidence-Based Medicine, Nephrotic Syndrome, Research, Prednisolone, Featured, Treatment Outcome, Adrenal Cortex Hormones, Recurrence, Pediatrics, Perinatology and Child Health, Quality of Life, Online First, Humans, Child, Glucocorticoids, Respiratory Tract Infections, Comments, Original Investigation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624ff0a56a1e917664485ed8159ee9c3Test
https://pubmed.ncbi.nlm.nih.gov/35410970Test -
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المؤلفون: Guillaume Dorval, Anna E. Mason, Elizabeth Colby, Agnieszka Bierzynska, Olivia Boyer, Ania Koziell, Moin A. Saleem, Maryam Afzal, NephroS Study, Maggie Williams, Gavin I. Welsh, Ethan S Sen
المصدر: Mason, A, Sen, E S, Bierzynska, A, Colby, E, Afzal, M, Dorval, G, Koziell, A, Williams, M, Boyer, O, Welsh, G I & Saleem, M 2020, ' Response to First Course of Intensified Immunosuppression in Genetically-Stratified Steroid Resistant Nephrotic Syndrome ', Clinical Journal of the American Society of Nephrology . https://doi.org/10.2215/CJN.13371019Test
Clin J Am Soc Nephrolمصطلحات موضوعية: medicine.medical_specialty, Nephrotic Syndrome, Epidemiology, Biopsy, medicine.medical_treatment, 030232 urology & nephrology, Disease, Critical Care and Intensive Care Medicine, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, pediatric nephrology, Internal medicine, medicine, Humans, Exome, Registries, Renal Insufficiency, Genetic Testing, 030304 developmental biology, Immunosuppression Therapy, 0303 health sciences, Transplantation, immunosuppression, Radar, Base Sequence, medicine.diagnostic_test, Glomerulosclerosis, Focal Segmental, nephrotic syndrome, business.industry, transplant outcomes, Immunosuppression, Original Articles, medicine.disease, 3. Good health, Steroid-resistant nephrotic syndrome, Nephrology, Cohort, Disease Progression, Steroids, Rituximab, business, Nephrotic syndrome, progression of renal failure, medicine.drug, Cohort study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697f9160f7a6a963930b8c9d84cde363Test
https://doi.org/10.2215/cjn.13371019Test -
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المؤلفون: Wendy Cook, Moin A. Saleem, Caroline Jones, Samir Mehta, Detlef Bockenhauer, Karl McKeever, Angela S Hall, Elizabeth Brettell, Martin Christian, Afentou Nafsika, Emma Frew, Shivaram Hegde, Nicholas J. A. Webb, Ania Koziell, Adam Khan, Natalie Ives, Hitesh Prajapati, Heather Maxwell, Rodney D. Gilbert, Rebecca Woolley, David V. Milford
المصدر: Nephrology Dialysis Transplantation. 36
مصطلحات موضوعية: Transplantation, medicine.medical_specialty, Randomization, Intention-to-treat analysis, Cost effectiveness, business.industry, Urea reduction ratio, medicine.disease, Upper respiratory tract infection, Quality of life, Nephrology, Internal medicine, Epidemiology, medicine, Prednisolone, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b7d948cd561925791c691ae0dbd5f915Test
https://doi.org/10.1093/ndt/gfab134.003Test -
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المؤلفون: Tamara Nikuševa Martić, Carmela Errichiello, Albertien M. van Eerde, Anniek Corveleyn, Pascale Hilbert, Rimante Cerkauskiene, Micheel van Geel, Samuela Landini, Concetta Gangemi, Miriam Zacchia, Emma Ashton, Evelien Van Hoof, Valeria Aiello, Martin C. Gregory, Elisabeth Ars, Viviana Palazzo, Constantinos Deltas, Asheeta Gupta, Laura Massella, Susie Gear, Laith Al-Rabadi, Danica Galešić Ljubanović, Louise Hopkinson, Julia Hoefele, Jens Michael Hertz, Peter H. Byers, Elizabeth Watson, Judy Savige, Agnieszka Bierzynska, Francesca Becherucci, Pavlina Plevova, Beata S. Lipska-Ziętkiewicz, Maggie Williams, Adrian Lungu, Ania Koziell, Kathleen Claes, Agne Cerkauskaite, Francesca Mari, Hendica Belge, Alessandra Renieri, Helen Storey, Hansjorg Martin Rothe, Rachel Lennon
المساهمون: Savige, J., Storey, H., Watson, E., Hertz, J. M., Deltas, C., Renieri, A., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., Koziell, A., Lungu, A., Rothe, H. M., Hoefele, J., Zacchia, M., Martic, T. N., Gupta, A., van Eerde, A., Gear, S., Landini, S., Palazzo, V., al-Rabadi, L., Claes, K., Corveleyn, A., Van Hoof, E., van Geel, M., Williams, M., Ashton, E., Belge, H., Ars, E., Bierzynska, A., Gangemi, C., Lipska-Zietkiewicz, B. S., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA KG Lab Centraal Lab (9)
المصدر: European Journal of Human Genetics
European journal of human genetics, London : Nature Publishing Group, 2021, vol. 29, no. 8, p. 1186-1197
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C & Lipska-Ziętkiewicz, B S 2021, ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ', European Journal of Human Genetics, vol. 29, no. 8, pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1Test
European Journal of Human Genetics, 29(8), 1186-1197. Nature Publishing Groupمصطلحات موضوعية: Collagen Type IV, medicine.medical_specialty, Consensus, IV COLLAGEN, 030232 urology & nephrology, AMINO-ACID-SEQUENCE, MEDICAL GENETICS, Diseases, Nephritis, Hereditary, AMERICAN-COLLEGE, Meeting Report, urologic and male genital diseases, Autoantigens, DISEASE, 03 medical and health sciences, diseases, Alport syndrome, 0302 clinical medicine, Genetics, medicine, GLYCINE SUBSTITUTIONS, Humans, Genetic Testing, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, MUTATIONS, Molecular diagnostics, medicine.disease, Phenotype, female genital diseases and pregnancy complications, Minor allele frequency, OSTEOGENESIS IMPERFECTA, BASEMENT-MEMBRANE, Practice Guidelines as Topic, Medical genetics, CHAIN, business, Nephrotic syndrome, Minigene, Founder effect
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ba1d946479e3486070f5e6a820f420Test
https://lirias.kuleuven.be/handle/123456789/675238Test