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Nature Genetics|November 7, 2006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, et al.Nature Communications|February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathyHeon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.Cell|August 7, 2012
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMoumita Chaki, Rannar Airik, Amiya K Ghosh, et al.Pageof 5