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Stem Cell Reports|November 5, 2019
Drug Discovery Platform Targeting M. tuberculosis with Human Embryonic Stem Cell-Derived MacrophagesHyo-Won Han, Hyang-Hee Seo, Hye-Yeong Jo, et al.European Journal of Human Genetics : EJHG|April 28, 2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, et al.Journal of Human Genetics|July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.Nature Communications|October 25, 2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye developmentFabiola Ceroni, Munevver B Cicekdal, Richard Holt, et al.Investigative Ophthalmology & Visual Science|August 20, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex MicrophthalmiaJulie Plaisancié, Clémentine Angée, Elisa Erjavec, et al.American Journal of Medical Genetics. Part A|February 13, 2013
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasiaJulie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, et al.Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.Science (New York, N.Y.)|March 18, 2017
Reversion of antibiotic resistance in Mycobacterium tuberculosis by spiroisoxazoline SMARt-420Nicolas Blondiaux, Martin Moune, Matthieu Desroses, et al.Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.Pageof 14