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American Journal of Human Genetics|March 6, 2012
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFBAndreas Zankl, Emma L Duncan, Paul J Leo, et al.Journal of Vascular Surgery|May 23, 2026
One-year Clinical Outcomes of Excluder Conformable for Patients with an Angulated Proximal Neck (Japanese Multicenter Study; EXTREME Registry)Hidetake Kawajiri, Naoki Fujimura, Arudo Hiraoka, et al.Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterationsEllen S Regalado, Lauren Mellor-Crummey, Julie De Backer, et al.Clinical Endocrinology|September 24, 2021
SDHC phaeochromocytoma and paraganglioma: A UK-wide case seriesSophie T Williams, Prodromos Chatzikyriakou, Paul V Carroll, et al.American Journal of Human Genetics|October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementInes Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.Plos One|March 12, 2014
Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohortsAnna L Mitchell, Katie D R Macarthur, Earn H Gan, et al.Pageof 18