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Journal of Medical Genetics|October 3, 2015
A human laterality disorder caused by a homozygous deleterious mutation in MMP21Zeev Perles, Sungjin Moon, Asaf Ta-Shma, et al.Disease Models & Mechanisms|August 27, 2024
A deleterious variant of INTS1 leads to disrupted sleep-wake cyclesShir Confino, Yair Wexler, Adar Medvetzky, et al.Neurogenetics|October 23, 2014
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A geneRuth Sheffer, Odeya Bennett-Back, Barak Yaacov, et al.Neurogenetics|September 15, 2016
PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyRonen Spiegel, Ann Saada, Jonatan Halvardson, et al.Epilepsia|December 21, 2012
West syndrome caused by ST3Gal-III deficiencySimon Edvardson, Anna-Maria Baumann, Martina Mühlenhoff, et al.Journal of Medical Genetics|January 22, 2016
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, et al.European Journal of Human Genetics : EJHG|March 9, 2017
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathySimon Edvardson, Laurence Prunetti, Aiman Arraf, et al.Biorxiv : the Preprint Server for Biology|March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structureAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.The Journal of Biological Chemistry|July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulationAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.Pageof 8