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Journal of Clinical Medicine|July 2, 2021
Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility StudyP V AshaRani, Syidda Amron, Noor Azizah Bte Zainuldin, et al.
Human Molecular Genetics|July 24, 2021
A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neuronsShermaine Huiping Tay, Erna Nur Ellieyana, Yao Le, et al.
Cellular and Molecular Life Sciences : CMLS|July 7, 2021
Optogenetic approaches for understanding homeostatic and degenerative processes in DrosophilaWen Kin Lim, Prameet Kaur, Huanyan Huang, et al.
American Journal of Human Genetics|May 26, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyHui Hui Wong, Sze Hwee Seet, Michael Maier, et al.
Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
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