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Human Mutation|March 2, 2017
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thriveFabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, et al.
Brain : a Journal of Neurology|February 26, 2016
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of conceptJulie W Rutten, Hans G Dauwerse, Dorien J M Peters, et al.
Molecular Genetics & Genomic Medicine|March 25, 2018
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 geneVyne van der Schoot, Sonja de Munnik, Hanka Venselaar, et al.
Orphanet Journal of Rare Diseases|October 24, 2020
Novel GANAB variants associated with polycystic liver diseaseLiyanne F M van de Laarschot, René H M Te Morsche, Alexander Hoischen, et al.
American Journal of Human Genetics|August 13, 2011
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsCathryn J Poulton, Rachel Schot, Sima Kheradmand Kia, et al.
Human Molecular Genetics|September 24, 2015
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndromeLouise F Porter, Giorgio G Galli, Sally Williamson, et al.
Hearing Research|January 13, 2024
Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9Dorien Verdoodt, Erwin van Wijk, Sanne Broekman, et al.
The Biochemical Journal|February 7, 2015
Modulation of spectral properties and pump activity of proteorhodopsins by retinal analoguesSrividya Ganapathy, Odette Bécheau, Hanka Venselaar, et al.
Molecular Microbiology|December 23, 2015
Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniaeKirsten Kuipers, Clement Gallay, Václav Martínek, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 22, 2012
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domainHyun-Ju Cho, Hong-Joon Park, Maria Trexler, et al.
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