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Human Mutation|August 14, 2020
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemiaSaleh Bhar, Fujun Zhou, Lucas C Reineke, et al.
The Journal of Clinical Investigation|November 22, 2016
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndromePing-Yuan Wang, Jie Li, Farzana L Walcott, et al.
Diabetologia|September 6, 2008
Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathyD A Savage, C C Patterson, P Deloukas, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypesSeth A Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, et al.
HGG Advances|October 27, 2025
Detailed assessment of rare and common TERT variation in a family with a telomere biology disorderLogan P Zeigler, Oscar Florez-Vargas, Burak Altintas, et al.
Science (New York, N.Y.)|February 27, 2025
Regulatory T cells constrain T cells of shared specificity to enforce tolerance during infectionDavid E J Klawon, Nicole Pagane, Matthew T Walker, et al.
Genetics|April 30, 1998
Topical reversion at the HIS1 locus of Saccharomyces cerevisiae. A tale of three mutantsR C von Borstel, E A Savage, Q Wang, et al.
Diabetes|August 28, 2004
Association analysis of the lymphocyte-specific protein tyrosine kinase (LCK) gene in type 1 diabetesJohn S Hulme, Bryan J Barratt, Rebecca C J Twells, et al.
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