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American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.JAMA Dermatology|May 25, 2022
Nonmelanoma Skin Cancer in Patients Older Than Age 85 Years Presenting for Mohs Surgery: A Prospective, Multicenter Cohort StudyAmanda Maisel-Campbell, Katherine A Lin, Sarah A Ibrahim, et al.Physical Review Letters|May 21, 2005
"Safe" Coulomb excitation of 30MgO Niedermaier, H Scheit, V Bildstein, et al.Journal of the American Academy of Dermatology|September 22, 2024
How dermatologic surgeons decide to proceed with surgery for nonmelanoma skin cancer when site identification is initially uncertain: A nationwide, multicenter, prospective studyAreeba Ahmed, Amanda Maisel-Campbell, Victoria J Shi, et al.Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.Developmental Science|April 20, 2026
ManyNumbers 3: A Multi-Lab Study of Demographic Correlates of Early Number KnowledgeYanfei Yu, David Barner, Miguel Mejia, et al.Pageof 34