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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2019
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeatNathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, et al.
Genome Research|October 26, 2018
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testesGeoffrey J Maher, Hannah K Ralph, Zhihao Ding, et al.
Cell Research|October 14, 2018
The adult human testis transcriptional cell atlasJingtao Guo, Edward J Grow, Hana Mlcochova, et al.
NPJ Genomic Medicine|April 9, 2022
Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumoursGeoffrey J Maher, Rosemary A Fisher, Baljeet Kaur, et al.
Oncogene|March 18, 2022
ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinomaMarina Georgiou, Panagiota Ntavelou, William Stokes, et al.
American Journal of Human Genetics|October 27, 2009
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice E Davidson, Ian D Millar, Jill E Urquhart, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
Virchows Archiv : an International Journal of Pathology|October 19, 2023
Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform molesCarla Bartosch, Alfons Nadal, Ana C Braga, et al.
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