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Journal of the American Society of Nephrology : JASN
|
April 7, 2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations <i>via</i> Dysregulation of Retinoic Acid Signaling
Asaf Vivante, Nina Mann, Hagith Yonath, et al.
American Journal of Human Genetics
|
November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
Nina Mann, Franziska Kause, Erik K Henze, et al.
The Journal of Urology
|
May 14, 2024
Reply by Authors
Kristen M Meier, Claudia Mata, Jill L Kaar, et al.
The Journal of Urology
|
May 3, 2024
Expert Consensus on Pediatric Urodynamics Reporting Using Modified Delphi Technique
Kristen M Meier, Claudia Mata, Jill L Kaar, 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 Tract
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
American Journal of Human Genetics
|
August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, 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.
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 families
Lea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
Journal of the American Society of Nephrology : JASN
|
August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Amelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
American Journal of Human Genetics
|
September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Dervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
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Showing results (91-100 of 100) with videos related to
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This site can display upto 100 results.
Journal of the American Society of Nephrology : JASN
|
April 7, 2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations <i>via</i> Dysregulation of Retinoic Acid Signaling
Asaf Vivante, Nina Mann, Hagith Yonath, et al.
American Journal of Human Genetics
|
November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
Nina Mann, Franziska Kause, Erik K Henze, et al.
The Journal of Urology
|
May 14, 2024
Reply by Authors
Kristen M Meier, Claudia Mata, Jill L Kaar, et al.
The Journal of Urology
|
May 3, 2024
Expert Consensus on Pediatric Urodynamics Reporting Using Modified Delphi Technique
Kristen M Meier, Claudia Mata, Jill L Kaar, 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 Tract
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
American Journal of Human Genetics
|
August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, 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.
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 families
Lea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
Journal of the American Society of Nephrology : JASN
|
August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Amelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
American Journal of Human Genetics
|
September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Dervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
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