Showing results (11-20 of 21) with videos related to
Sort By:
Pageof 3
The Journal of Clinical Investigation|October 23, 2019
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenaseMax Drabkin, Yuval Yogev, Lior Zeller, et al.Brain : a Journal of Neurology|March 10, 2018
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3Yonatan Perez, Shay Menascu, Idan Cohen, et al.Human Molecular Genetics|September 12, 2015
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delayMichael Volodarsky, Hava Lichtig, Tom Leibson, et al.Journal of Medical Genetics|March 1, 2014
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)Miora Feinstein, Hagit Flusser, Tally Lerman-Sagie, et al.Journal of Medical Genetics|January 31, 2024
ZNF142 mutation causes sex-dependent neurologic disorderRegina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, et al.Plos Genetics|March 24, 2016
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain SizeRotem Kadir, Tamar Harel, Barak Markus, et al.American Journal of Medical Genetics. Part A|December 5, 2018
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribeOhad Wormser, Libe Gradstein, Einat Kadar, et al.Journal of Medical Genetics|November 23, 2018
SEC31A mutation affects ER homeostasis, causing a neurological syndromeDaniel Halperin, Rotem Kadir, Yonatan Perez, et al.European Journal of Human Genetics : EJHG|May 11, 2017
Progressive hereditary spastic paraplegia caused by a homozygous KY mutationYuval Yogev, Yonatan Perez, Iris Noyman, et al.Brain : a Journal of Neurology|March 24, 2017
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndromeYonatan Perez, Zamir Shorer, Keren Liani-Leibson, et al.Pageof 3