Showing results (91-100 of 100) with videos related to
Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 100 results.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, 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.Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.Nature Genetics|December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.Nature Genetics|March 1, 2019
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, 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.Nature Communications|August 7, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genesHila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, et al.Pageof 10