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American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 16, 2022
Effect of sodium phenylbutyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trialSabrina Paganoni, Suzanne Hendrix, Samuel P Dickson, et al.Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.Iucrj|July 22, 2025
High-quality ultra-fast total scattering and pair distribution function data using an X-ray free-electron laserAdam F Sapnik, Philip A Chater, Dean S Keeble, et al.Plos Genetics|February 20, 2014
Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinomaMitesh J Borad, Mia D Champion, Jan B Egan, et al.Nature|August 4, 2017
Persistent anthrax as a major driver of wildlife mortality in a tropical rainforestConstanze Hoffmann, Fee Zimmermann, Roman Biek, et al.Genetics in Medicine Open|June 5, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.Pageof 176