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Human Mutation|December 3, 2009
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra Pangrazio, Michael Pusch, Elena Caldana, et al.Journal of Lipid Research|September 17, 2015
Glucagon receptor antagonism induces increased cholesterol absorptionHong-Ping Guan, Xiaodong Yang, Ku Lu, et al.Archives of Disease in Childhood|January 21, 2026
UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi processToby P Candler, Kate Ali, Emma Bewick, et al.International Journal of Environmental Research and Public Health|August 27, 2021
Co-Designing Health Service Evaluation Tools That Foreground First Nation Worldviews for Better Mental Health and Wellbeing OutcomesMichael Wright, Aunty Doris Getta, Aunty Oriel Green, et al.Molecular Ecology Resources|August 16, 2021
Towards reproducible metabarcoding data: Lessons from an international cross-laboratory experimentAnastasija Zaiko, Paul Greenfield, Cathryn Abbott, et al.Trials|June 17, 2025
Evaluating the effect of incentives on recruiting people with low back pain with limited English proficiency as part of the COMFORT cluster randomised controlled trial: a study protocol for a study within a trial (SWAT)Lisa Vizza, Christopher G Maher, Rowena Ivers, 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.Journal of Medicinal Chemistry|October 15, 2025
Discovery of NP3-742: A Structurally Diverse NLRP3 Inhibitor Identified through an Unusual Phenol ReplacementJuraj Velcicky, Jean-Baptiste Langlois, Michael Wright, et al.Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.Pageof 36