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American Journal of Human Genetics
|
October 22, 2013
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency
Karin Chen, Emily M Coonrod, Attila Kumánovics, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)
Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, et al.
Nature Biotechnology
|
May 20, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hao Hu, Jared C Roach, Hilary Coon, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models
Chunyan Wang, Steve Seltzsam, Bixia Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Amar J Majmundar, Eugen Widmeier, John F Heneghan, 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.
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.
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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Search research articles
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Showing results (31-40 of 39) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 39 results.
American Journal of Human Genetics
|
October 22, 2013
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency
Karin Chen, Emily M Coonrod, Attila Kumánovics, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)
Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, et al.
Nature Biotechnology
|
May 20, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hao Hu, Jared C Roach, Hilary Coon, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models
Chunyan Wang, Steve Seltzsam, Bixia Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Amar J Majmundar, Eugen Widmeier, John F Heneghan, 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.
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.
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.
Page
of 4