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Steve Seltzsam

Showing results (11-20 of 19) with videos related to

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American Journal of Medical Genetics. Part A|January 18, 2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse modelsChunyan Wang, Steve Seltzsam, Bixia Zheng, et al.
Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.
American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.
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 TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, 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 syndromeRonen 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 CAKUTSteve Seltzsam, Chunyan Wang, Bixia Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.
American Journal of Human Genetics|September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
American Journal of Medical Genetics. Part A|January 18, 2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse modelsChunyan Wang, Steve Seltzsam, Bixia Zheng, et al.
Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.
American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.
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 TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, 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 syndromeRonen 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 CAKUTSteve Seltzsam, Chunyan Wang, Bixia Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.
American Journal of Human Genetics|September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
Pageof 2