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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2018
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotypeLara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, et al.
Cancer Discovery|April 4, 2018
Response to ERBB3-Directed Targeted Therapy in <i>NRG1</i>-Rearranged CancersAlexander Drilon, Romel Somwar, Biju P Mangatt, et al.
The Journal of Rheumatology|July 3, 2019
Chronic Joint Pain 3 Years after Chikungunya Virus Infection Largely Characterized by Relapsing-remitting SymptomsSarah R Tritsch, Liliana Encinales, Nelly Pacheco, et al.
American Journal of Human Genetics|August 2, 2011
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotypeMaría Palomares, Alicia Delicado, Elena Mansilla, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaJose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
Clinical and Experimental Rheumatology|November 18, 2015
Fibromyalgia prevalence and related factors in a large registry of patients with systemic lupus erythematosusVicenç Torrente-Segarra, Tarek C Salman-Monte, Íñigo Rúa-Figueroa, et al.
Clinical and Experimental Rheumatology|June 20, 2017
Juvenile- and adult-onset systemic lupus erythematosus: a comparative study in a large cohort from the Spanish Society of Rheumatology Lupus Registry (RELESSER)Vicenç Torrente-Segarra, Tarek Carlos Salman Monte, Iñigo Rúa-Figueroa, et al.
Nature Communications|February 17, 2019
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathyMaría Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 10, 2015
2015 recommendations for the management of polymyalgia rheumatica: a European League Against Rheumatism/American College of Rheumatology collaborative initiativeChristian Dejaco, Yogesh P Singh, Pablo Perel, et al.
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