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Marijan Saraga

Showing results (41-50 of 54) with videos related to

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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 anomaliesJeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone 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-glomerulopathyNóra 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 MalformationsSimone 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 analysisNóra 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 malformationsSimone 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-GlomerulopathyNóra 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 syndromeAlexandra 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 RefluxMiguel 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 DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 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 anomaliesJeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone 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-glomerulopathyNóra 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 MalformationsSimone 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 analysisNóra 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 malformationsSimone 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-GlomerulopathyNóra 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 syndromeAlexandra 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 RefluxMiguel 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 DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.
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