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HGG Advances|January 20, 2022
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological diseaseAlexa Derksen, Hung-Yu Shih, Diane Forget, et al.Brain : a Journal of Neurology|August 28, 2023
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophyMackenzie A Michell-Robinson, Kristin E N Watt, Vladimir Grouza, et al.Genes & Development|June 16, 2022
Recurrent chromosomal translocations in sarcomas create a megacomplex that mislocalizes NuA4/TIP60 to Polycomb target lociDeepthi Sudarshan, Nikita Avvakumov, Marie-Eve Lalonde, et al.American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.Clinical Biochemistry|January 15, 2013
Rapid development of sensitive, high-throughput, quantitative and highly selective mass spectrometric targeted immunoassays for clinically important proteins in human plasma and serumBryan Krastins, Amol Prakash, David A Sarracino, et al.Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.Metabolites|March 24, 2022
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial HypercholesterolemiaYoumna Ghaleb, Sandy Elbitar, Anne Philippi, et al.Nature Methods|August 8, 2013
The CRAPome: a contaminant repository for affinity purification-mass spectrometry dataDattatreya Mellacheruvu, Zachary Wright, Amber L Couzens, et al.Pageof 9