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Pigment Cell & Melanoma Research|November 29, 2013
Identification of PLX4032-resistance mechanisms and implications for novel RAF inhibitorsJaehyuk Choi, Sean F Landrette, Tiffany Wang, et al.The Journal of Allergy and Clinical Immunology|July 2, 2025
Complement factor I deficiency-associated neuroinflammatory disease among Old Order AmishWhitney Reid, Laura Baas, Amy L Stiegler, et al.Clinical Immunology (Orlando, Fla.)|April 28, 2025
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemiaRavindra Daddali, Kaisa Kettunen, Tanja Turunen, et al.Nature Genetics|September 15, 2014
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammationNeil Romberg, Khatoun Al Moussawi, Carol Nelson-Williams, et al.Translational Research : the Journal of Laboratory and Clinical Medicine|February 26, 2019
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathyAndreas Brodehl, Saman Rezazadeh, Tatjana Williams, et al.American Journal of Human Genetics|April 22, 2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosisAndrew T Timberlake, Stephen McGee, Garrett Allington, et al.Human Genetics|August 23, 2022
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosisAndrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, et al.Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinomaSiming Zhao, Murim Choi, John D Overton, et al.Proceedings of the National Academy of Sciences of the United States of America|October 30, 2016
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transitionSiming Zhao, Stefania Bellone, Salvatore Lopez, et al.Proceedings of the National Academy of Sciences of the United States of America|October 19, 2019
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapyLuca Zammataro, Salvatore Lopez, Stefania Bellone, et al.Pageof 5