المؤلفون: Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik, Zanoni, Francesca, Marasa, Maddalena, Turudic, Daniel, Giordano, Mario, Gesualdo, Loreto, Magistroni, Riccardo, Pisani, Isabella, Fiaccadori, Enrico, Reiterova, Jana, Maringhini, Silvio, Morello, William, Montini, Giovanni, Weng, Patricia L., Scolari, Francesco, Saraga, Marijan, Tasic, Velibor, Santoro, Domenica, van Wijk, Joanna A. E., Milošević, Danko, Kawai, Yosuke, Kiryluk, Krzysztof, Pollak, Martin R., Gharavi, Ali, Lin, Fangmin, Simœs e Silva, Ana Cristina, Loos, Ruth J. F., Kenny, Eimear E., Schreuder, Michiel F., Zurowska, Aleksandra, Dossier, Claire, Ariceta Iraola, Gema, Drozynska-Duklas, Magdalena, Hogan, Julien, Jankauskiene, Augustina, Hildebrandt, Friedhelm, Prikhodina, Larisa, Song, Kyuyoung, Bagga, Arvind, Cheong, Hae, Ghiggeri, Gian Marco, Vachvanichsanong, Prayong, Nozu, Kandai, Lee, Dongwon, Vivarelli, Marina, Raychaudhuri, Soumya, Tokunaga, Katsushi, Sanna-Cherchi, Simone, Ronco, Pierre, Iijima, Kazumoto, Sampson, Matthew G., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Minimal change disease, Genetics, Paediatric kidney disease

وصف الملف: application/pdf

العلاقة: Nature communications; Vol. 14 (april 2023); https://ddd.uab.cat/record/281599Test; urn:10.1038/s41467-023-37985-w; urn:oai:ddd.uab.cat:281599; urn:pmcid:PMC10148875; urn:pmc-uid:10148875; urn:pmid:37120605; urn:oai:pubmedcentral.nih.gov:10148875; urn:oai:egreta.uab.cat:publications/c891ff20-e8b3-4bc6-9497-02f2038c4de1

الإتاحة: https://ddd.uab.cat/record/281599Test

المؤلفون: Michalina Jezierska, Joanna Stefanowicz

المصدر: Children; Volume 9; Issue 11; Pages: 1668

مصطلحات موضوعية: dimethylarginine, asymmetric dimethylarginine, symmetric dimethylarginine, children, kidney, paediatric kidney disease

وصف الملف: application/pdf

العلاقة: Pediatric Nephrology; https://dx.doi.org/10.3390/children9111668Test

الإتاحة: https://doi.org/10.3390/children9111668Test

المؤلفون: Alberto Edefonti, Antonio Vergori, Giovanni Montini, Francesco Emma

المصدر: Giornale di Clinica Nefrologia e Dialisi, Vol 33 (2021)

مصطلحات موضوعية: Paediatric kidney disease, Precision medicine, Slow medicine, Paediatric guidelines, Internal medicine, RC31-1245, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: https://journals.aboutscience.eu/index.php/gcnd/article/view/2248Test; https://doaj.org/toc/2705-0076Test

الوصول الحر: https://doaj.org/article/5a4fca0d002649daa7d1d2f693fde441Test

المؤلفون: Boyer, O, Schaefer, F, Haffner, D, Bockenhauer, D, Holtta, T, Berody, S, Webb, H, Heselden, M, Lipska-Zietkiewicz, BS, Ozaltin, F, Levtchenko, E, Vivarelli, M

المصدر: Nature Reviews Nephrology , 17 pp. 277-289. (2021)

مصطلحات موضوعية: Focal segmental glomerulosclerosis, Paediatric kidney disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124512/1/51445_0_art_0_qrmrkw.R1.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124512Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124512/1/51445_0_art_0_qrmrkw.R1.docx.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124512Test/

المؤلفون: Plumb, Lucy, Nitsch, Dorothea

المصدر: Plumb , L & Nitsch , D 2020 , ' Are electronic health records ready for clinical trial use? ' , Nature Reviews Nephrology . https://doi.org/10.1038/s41581-020-0252-2Test

مصطلحات موضوعية: clinical trials, glomerular diseases, paediatric kidney disease, paediatric research

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41581-020-0252-2Test
https://hdl.handle.net/1983/ed5f9ea6-8afb-4597-b9d8-1c51fa579663Test
https://research-information.bris.ac.uk/en/publications/ed5f9ea6-8afb-4597-b9d8-1c51fa579663Test
https://research-information.bris.ac.uk/ws/files/224223977/Plumb_NRNEPH.pdfTest

المؤلفون: Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Günthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia

المصدر: http://lobid.org/resources/99370671030206441Test#!, 29(2):262-270.

مصطلحات موضوعية: Female [MeSH], End-stage renal disease, Adult [MeSH], Humans [MeSH], Whole Exome Sequencing [MeSH], Genetics research, Genetic Testing [MeSH], Glomerulosclerosis, Focal Segmental/diagnosis [MeSH], Article, Nephrotic Syndrome/diagnosis [MeSH], Focal Segmental/genetics [MeSH], Male [MeSH], Focal segmental glomerulosclerosis, Young Adult [MeSH], Genetic Research [MeSH], Exome [MeSH], Paediatric kidney disease, Phenotype [MeSH], Kidney Diseases/genetics [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6472112Test; https://doi.org/10.1038/s41431-020-00719-3Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868362Test/

الإتاحة: https://doi.org/10.1038/s41431-020-00719-3Test
https://repository.publisso.de/resource/frl:6472112Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868362Test/

المؤلفون: Zondiwe Victor Mwanza, Mignon McCulloch, Mark Drayson, Timothy Plant, David V. Milford, Gavin Dreyer

المصدر: BMC Nephrology, Vol 19, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Paediatric kidney disease, Malawi, Outcome, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12882-018-0832-6Test; https://doaj.org/toc/1471-2369Test

الوصول الحر: https://doaj.org/article/e4c8adb8e880486b9bc17befc15092cfTest

المؤلفون: China Nagano, Akira Otake, Hiroyuki Mishima, Yasutoshi Koga, Hisato Suzuki, Koh-ichiro Yoshiura, Kei Murayama, Tomohiko Yamamura, Kojima Ishii Kanako, Kenjiro Kosaki, Satoshi Murata, Kazumoto Iijima, Koji Nagatani, Nana Sakakibara, Tomoko Horinouchi, Yuichi Mushimoto, Yuko Ichimiya, Tomoko Uehara, Kandai Nozu

المصدر: Journal of Human Genetics. 67(3):143-148

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mitochondrial Diseases, BCS1L, Developmental Disabilities, Cardiomyopathy, Compound heterozygosity, Bioinformatics, Electron Transport Complex III, hemic and lymphatic diseases, Genetics, Humans, Medicine, Child, Gene, Genetics (clinical), Paediatric kidney disease, business.industry, nutritional and metabolic diseases, Fanconi syndrome, Metabolic acidosis, medicine.disease, Mitochondrial respiratory chain complex III, Mutation, ATPases Associated with Diverse Cellular Activities, business, Hypophosphatemia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b06d67620a86f8c978708e9b72598dbTest
https://hdl.handle.net/20.500.14094/0100481828Test

المؤلفون: Mwanza, Zondiwe V, McCulloch, Mignon, Drayson, Mark, Plant, Timothy, Milford, David V, Dreyer, Gavin

المصدر: BMC Nephrology ; https://bmcnephrol.biomedcentral.comTest/

مصطلحات موضوعية: Paediatric kidney disease, Malawi, Outcome

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1186/s12882-018-0832-6Test; http://hdl.handle.net/11427/27803Test; https://open.uct.ac.za/bitstream/11427/27803/1/Mwanza_2018_Article.pdfTest

الإتاحة: https://doi.org/10.1186/s12882-018-0832-6Test
http://hdl.handle.net/11427/27803Test
https://open.uct.ac.za/bitstream/11427/27803/1/Mwanza_2018_Article.pdfTest

المؤلفون: Pankaj Prasun, Bryn D. Webb, Hilary Hotchkiss, Lisa M. Satlin, Bruce D. Gelb

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: medicine.medical_specialty, Hypokalemia, KCNJ10, Brief Communication, Distal nephron, Loss of Function Mutation, Internal medicine, Genetics research, Genetics, medicine, Humans, Hyperchloremic metabolic acidosis, Potassium Channels, Inwardly Rectifying, Genetics (clinical), Exome sequencing, Loss function, Alleles, Epithelial polarity, Paediatric kidney disease, biology, Chemistry, Chronic metabolic acidosis, Metabolic acidosis, medicine.disease, Endocrinology, Child, Preschool, biology.protein, Female, Acidosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa511b15547ec5ce083c294b8936e21Test
http://europepmc.org/articles/PMC8484552Test