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Showing results (491-500 of 503) with videos related to

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Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.
Kidney International|October 22, 2015
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUTNayia Nicolaou, Sara L Pulit, Isaac J Nijman, et al.
Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.
Nature Genetics|July 10, 2012
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repairWeibin Zhou, Edgar A Otto, Andrew Cluckey, et al.
Circulation Research|January 20, 2018
Reducing Cardiovascular Disparities Through Community-Engaged Implementation Research: A National Heart, Lung, and Blood Institute Workshop ReportGeorge A Mensah, Richard S Cooper, Anna Maria Siega-Riz, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Nature Cancer|May 27, 2022
A community approach to the cancer-variant-interpretation bottleneckKilannin Krysiak, Arpad M Danos, Susanna Kiwala, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, 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.
Pageof 51

Showing results (491-500 of 503) with videos related to

Sort By:
Pageof 51
Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.
Kidney International|October 22, 2015
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUTNayia Nicolaou, Sara L Pulit, Isaac J Nijman, et al.
Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.
Nature Genetics|July 10, 2012
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repairWeibin Zhou, Edgar A Otto, Andrew Cluckey, et al.
Circulation Research|January 20, 2018
Reducing Cardiovascular Disparities Through Community-Engaged Implementation Research: A National Heart, Lung, and Blood Institute Workshop ReportGeorge A Mensah, Richard S Cooper, Anna Maria Siega-Riz, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Nature Cancer|May 27, 2022
A community approach to the cancer-variant-interpretation bottleneckKilannin Krysiak, Arpad M Danos, Susanna Kiwala, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, 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.
Pageof 51