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Molecular Cell|October 5, 2024
Cell-cycle-dependent mRNA localization in P-bodiesAdham Safieddine, Marie-Noëlle Benassy, Thomas Bonte, et al.Journal of Pediatric Surgery|July 20, 2010
Wandering spleen in children: multicenter retrospective studyCaroline Fiquet-Francois, Mohamed Belouadah, Hugues Ludot, et al.Nature Genetics|July 2, 2003
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31Philomena Mburu, Mirna Mustapha, Anabel Varela, et al.Proceedings of the National Academy of Sciences of the United States of America|May 14, 2004
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexesRainer G Ruf, Pin-Xian Xu, Derek Silvius, et al.Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.Journal of Pediatric Surgery|August 13, 2013
Esophageal atresia: data from a national cohortRony Sfeir, Arnaud Bonnard, Naziha Khen-Dunlop, et al.American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.Proceedings of the National Academy of Sciences of the United States of America|April 20, 2021
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial diseaseTom Le Voyer, Anna-Lena Neehus, Rui Yang, et al.Orphanet Journal of Rare Diseases|May 17, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosisCrystel Bonnet, M'hamed Grati, Sandrine Marlin, et al.Orphanet Journal of Rare Diseases|December 16, 2014
Results from the French National Esophageal Atresia register: one-year outcomeAnne Schneider, Sébastien Blanc, Arnaud Bonnard, et al.Pageof 11