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American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.Haematologica|February 26, 2026
Venetoclax and azacitidine for younger acute myeloid leukemia patients independent of fitness for intensive chemotherapyJustin Watts, Ellen Madarang, Diana Abbott, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.American Journal of Human Genetics|May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones SyndromeStephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.Journal of the National Comprehensive Cancer Network : JNCCN|November 11, 2015
Multiple Myeloma, Version 2.2016: Clinical Practice Guidelines in OncologyKenneth C Anderson, Melissa Alsina, Djordje Atanackovic, et al.American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|March 23, 2022
Development of Neutralization Breadth against Diverse HIV-1 by Increasing Ab-Ag Interface on V2Nan Gao, Yanxin Gai, Lina Meng, et al.Pageof 36