Search research articles
Contact Us
Filters
Showing results (41-50 of 54) with videos related to
Page
of 6
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2023
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies
Jeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
The New England Journal of Medicine
|
July 19, 2013
Mutations in DSTYK and dominant urinary tract malformations
Simone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.
Orphanet Journal of Rare Diseases
|
November 10, 2019
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy
Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, et al.
American Journal of Human Genetics
|
November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
Clinical Kidney Journal
|
April 17, 2020
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis
Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, et al.
American Journal of Human Genetics
|
November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformations
Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.
Frontiers in Immunology
|
September 27, 2021
FHR-5 Serum Levels and <i>CFHR5</i> Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy
Nóra Garam, Marcell Cserhalmi, Zoltán Prohászka, et al.
Nature Communications
|
April 29, 2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, et al.
Journal of the American Society of Nephrology : JASN
|
February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.
Journal of the American Society of Nephrology : JASN
|
March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Dina F Ahram, Tze Y Lim, Juntao Ke, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2023
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies
Jeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
The New England Journal of Medicine
|
July 19, 2013
Mutations in DSTYK and dominant urinary tract malformations
Simone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.
Orphanet Journal of Rare Diseases
|
November 10, 2019
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy
Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, et al.
American Journal of Human Genetics
|
November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
Clinical Kidney Journal
|
April 17, 2020
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis
Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, et al.
American Journal of Human Genetics
|
November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformations
Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.
Frontiers in Immunology
|
September 27, 2021
FHR-5 Serum Levels and <i>CFHR5</i> Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy
Nóra Garam, Marcell Cserhalmi, Zoltán Prohászka, et al.
Nature Communications
|
April 29, 2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, et al.
Journal of the American Society of Nephrology : JASN
|
February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.
Journal of the American Society of Nephrology : JASN
|
March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Dina F Ahram, Tze Y Lim, Juntao Ke, et al.
Page
of 6