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European Urology Open Science
|
October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
The Journal of Clinical Investigation
|
October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
Jia Rao, Shazia Ashraf, Weizhen Tan, et al.
Pediatric Pulmonology
|
January 8, 2019
Interleukin-4 -590C/T gene polymorphism in Egyptian children with acute lower respiratory infection: A multicenter study
Ahmed A Emam, Mohamed M M Shehab, Mayy A N Allah, et al.
Science Advances
|
February 1, 2021
Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice
Amar J Majmundar, Florian Buerger, Thomas A Forbes, et al.
Nature Genetics
|
June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.
Kidney International
|
September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Ankana Daga, Amar J Majmundar, Daniela A Braun, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Journal of the American Society of Nephrology : JASN
|
February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, et al.
Nature Communications
|
February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathy
Heon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.
The Journal of Pediatrics
|
May 14, 2018
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, et al.
Page
of 123
Search research articles
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Showing results (1201-1210 of 1,228) with videos related to
Sort By:
Page
of 123
European Urology Open Science
|
October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
The Journal of Clinical Investigation
|
October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
Jia Rao, Shazia Ashraf, Weizhen Tan, et al.
Pediatric Pulmonology
|
January 8, 2019
Interleukin-4 -590C/T gene polymorphism in Egyptian children with acute lower respiratory infection: A multicenter study
Ahmed A Emam, Mohamed M M Shehab, Mayy A N Allah, et al.
Science Advances
|
February 1, 2021
Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice
Amar J Majmundar, Florian Buerger, Thomas A Forbes, et al.
Nature Genetics
|
June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.
Kidney International
|
September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Ankana Daga, Amar J Majmundar, Daniela A Braun, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Journal of the American Society of Nephrology : JASN
|
February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, et al.
Nature Communications
|
February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathy
Heon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.
The Journal of Pediatrics
|
May 14, 2018
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, et al.
Page
of 123