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Orphanet Journal of Rare Diseases|November 5, 2025
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center studyArthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
EMBO Reports|November 17, 2017
ArfGAP1 restricts Mycobacterium tuberculosis entry by controlling the actin cytoskeletonOk-Ryul Song, Christophe J Queval, Raffaella Iantomasi, et al.
Scientific Reports|May 12, 2018
Publisher Correction: Combination therapy for tuberculosis treatment: pulmonary administration of ethionamide and booster co-loaded nanoparticlesJoana Costa-Gouveia, Elisabetta Pancani, Samuel Jouny, et al.
Scientific Reports|July 16, 2017
Combination therapy for tuberculosis treatment: pulmonary administration of ethionamide and booster co-loaded nanoparticlesJoana Costa-Gouveia, Elisabetta Pancani, Samuel Jouny, et al.
Cell Reports|September 28, 2017
Mycobacterium tuberculosis Controls Phagosomal Acidification by Targeting CISH-Mediated SignalingChristophe J Queval, Ok-Ryul Song, Jean-Philippe Carralot, et al.
Bioorganic & Medicinal Chemistry|October 19, 2020
Discovery of thienothiazolocarboxamide analogues as novel anti-tubercular agentGuanghai Jin, Young Mi Kim, Aram Lee, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
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