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Nature Genetics|May 23, 2017
The complex genetics of hypoplastic left heart syndromeXiaoqin Liu, Hisato Yagi, Shazina Saeed, et al.American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.Nature Genetics|October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesAnne Guimier, George C Gabriel, Fanny Bajolle, et al.Cell Reports. Medicine|March 4, 2022
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritabilityPolakit Teekakirikul, Wenjuan Zhu, Xinxiu Xu, et al.Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.HGG Advances|December 10, 2021
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart diseasePolakit Teekakirikul, Wenjuan Zhu, George C Gabriel, et al.Genome Biology|July 18, 2018
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6Bram P Prins, Timothy J Mead, Jennifer A Brody, et al.Pageof 27