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Molecular Genetics & Genomic Medicine|March 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicingBianca R Grosz, Stephen Tisch, Michel C Tchan, et al.Journal of the Endocrine Society|September 17, 2020
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an <i>LMNA</i> p.R349W VariantIram Hussain, Ruilin Raelene Jin, Howard B A Baum, et al.Oncogene|February 16, 2016
Loss of DAB2IP in RCC cells enhances their growth and resistance to mTOR-targeted therapiesJ Zhou, J Luo, K Wu, et al.Oncogene|April 23, 2013
The role of DAB2IP in androgen receptor activation during prostate cancer progressionK Wu, J Liu, S-F Tseng, et al.Physical Review Letters|August 8, 2009
Enhanced laser-driven ion acceleration in the relativistic transparency regimeA Henig, D Kiefer, K Markey, et al.Journal of Clinical Immunology|October 17, 2021
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 DeficiencyJin Yan Yap, Leen Moens, Ming-Wei Lin, et al.Cerebellum (London, England)|June 6, 2025
Comprehensive Characterisation of the RFC1 Repeat in an Australian CohortKayli C Davies, Haloom Rafehi, Liam G Fearnley, et al.International Journal of Cardiology|February 13, 2021
Investigation of current models of care for genetic heart disease in Australia: A national clinical auditRachel Austin, Michael C J Quinn, Clifford Afoakwah, et al.Ecological Applications : a Publication of the Ecological Society of America|November 22, 2020
Increasing comparability among coral bleaching experimentsA G Grottoli, R J Toonen, R van Woesik, et al.Genome Research|February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxiaHaloom Rafehi, Liam G Fearnley, Justin Read, et al.Pageof 27