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Blood|October 23, 2008
Transcriptional repression of microRNA genes by PML-RARA increases expression of key cancer proteins in acute promyelocytic leukemiaAnne Saumet, Guillaume Vetter, Manuella Bouttier, et al.Journal of Child Neurology|December 17, 2017
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability SyndromeGabriella A Horvath, Maja Tarailo-Graovac, Tanja Bartel, et al.Journal of Inherited Metabolic Disease|May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature reviewEmma Graham, Jessica Lee, Magda Price, et al.Molecular Genetics and Metabolism|March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritisSaikat Santra, Jessie M Cameron, Casper Shyr, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseasesMorgan Ehman, Kartik Sharma, Deirdre Weymann, et al.Plos Biology|March 8, 2017
CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learningPuya Seid-Karbasi, Xin C Ye, Allen W Zhang, et al.Nucleic Acids Research|December 1, 2025
JASPAR 2026: expansion of transcription factor binding profiles and integration of deep learning modelsDamla Ovek Baydar, Ieva Rauluseviciute, Dina R Aronsen, et al.Journal of Lipid Research|March 18, 2005
Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesisJonathan M Coutinho, Roshni R Singaraja, Martin Kang, et al.Gene Therapy|February 3, 2021
Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Müller glial, and PAX6 cellsAndrea J Korecki, Jorge L Cueva-Vargas, Oriol Fornes, et al.European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.Pageof 29