Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Syndrome and OCRL[original query] |
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Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene. Clinical biochemistry 2010 1 43 (6): 609-14. Coutton Charles, Monnier Nicole, Rendu John, Lunardi Jo |
A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome. Pharmacogenetics and genomics 2015 Feb 25 (2): 82-92. Dahlin Amber, Wittwer Matthias, de la Cruz Melanie, Woo Jonathan M, Bam Rujuta, Scharen-Guivel Valeska, Flaherty John, Ray Adrian S, Cihlar Tomas, Gupta Samir K, Giacomini Kathleen |
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016 Oct . Zaniew Marcin, Bökenkamp Arend, Ko?buc Marcin, La Scola Claudio, Baronio Federico, Niemirska Anna, Szczepa?ska Maria, Bürger Julia, La Manna Angela, Miklaszewska Monika, Rogowska-Kalisz Anna, Gellermann Jutta, Zampetoglou Argyroula, Wasilewska Anna, Roszak Magdalena, Moczko Jerzy, Krzemie? Aleksandra, Runowski Dariusz, Site? Grzegorz, Za?uska-Le?niewska Iga, Fonduli Patrizia, Zurrida Franca, Paglialonga Fabio, Gucev Zoran, Paripovic Dusan, Rus Rina, Said-Conti Valerie, Sartz Lisa, Chung Woo Yeong, Park Se Jin, Lee Jung Won, Park Yong Hoon, Ahn Yo Han, Sikora Przemys?aw, Stefanidis Constantinos J, Tasic Velibor, Konrad Martin, Anglani Franca, Addis Maria, Cheong Hae Il, Ludwig Michael, Bockenhauer Detl |
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney international 2017 1 91 (4): 937-947. Bierzynska Agnieszka, McCarthy Hugh J, Soderquest Katrina, Sen Ethan S, Colby Elizabeth, Ding Wen Y, Nabhan Marwa M, Kerecuk Larissa, Hegde Shivram, Hughes David, Marks Stephen, Feather Sally, Jones Caroline, Webb Nicholas J A, Ognjanovic Milos, Christian Martin, Gilbert Rodney D, Sinha Manish D, Lord Graham M, Simpson Michael, Koziell Ania B, Welsh Gavin I, Saleem Moin |
Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review. BMC medical genomics 2021 9 14 (1): 219. Zhang Yu, Deng Linxia, Chen Xiaohong, Hu Yingjie, Chen Yaxian, Chen Kang, Zhou Jianh |
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations. Genetics research 2022 8 2022 1473260. Zhang Lingxia, Wang Shugang, Mao Ruoque, Fu Haidong, Wang Jingjing, Shen Huijun, Lu Zhihong, Chen Junyi, Bao Yu, Feng Chunyue, Lai En Yin, Ye Qing, Mao Jianh |
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- Page last updated:May 06, 2024
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