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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.
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.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, 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.
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.
Genes & Diseases
|
November 25, 2024
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome
Ronen Schneider, Shirlee Shril, Florian Buerger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
Steve Seltzsam, Chunyan Wang, Bixia Zheng, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
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.
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.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, 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.
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.
Genes & Diseases
|
November 25, 2024
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome
Ronen Schneider, Shirlee Shril, Florian Buerger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
Steve Seltzsam, Chunyan Wang, Bixia Zheng, et al.
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of 8