Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Plos One|June 6, 2012
Localization of the Drosophila Rad9 protein to the nuclear membrane is regulated by the C-terminal region and is affected in the meiotic checkpointRotem Kadir, Anna Bakhrat, Ronit Tokarsky, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansionIdan Cohen, Orna Staretz-Chacham, Ohad Wormser, et al.
Biochimica Et Biophysica Acta|September 25, 2016
PPARγ regulates exocrine pancreas lipaseHila Danino, Ronny Peri- Naor, Chen Fogel, et al.
Human Mutation|August 6, 2017
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delayRegina Proskorovski-Ohayon, Rotem Kadir, Analia Michalowski, et al.
Brain : a Journal of Neurology|February 5, 2019
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafishYonatan Perez, Reut Bar-Yaacov, Rotem Kadir, et al.
Journal of Medical Genetics|November 8, 2015
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCNYonatan Perez, Rotem Kadir, Michael Volodarsky, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutationYonatan Perez, Libe Gradstein, Hagit Flusser, et al.
Nature Communications|November 10, 2019
Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viabilityAviv Rom, Liliya Melamed, Noa Gil, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferaseIdan Cohen, Eldad Silberstein, Yonatan Perez, et al.
Circulation. Genomic and Precision Medicine|December 21, 2018
Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium ChannelMax Drabkin, Noam Zilberberg, Sasson Menahem, et al.
Pageof 3