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European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.The Journal of Clinical Endocrinology and Metabolism|November 28, 2020
Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine PracticeClotilde Saie, Alexandre Buffet, Juliette Abeillon, et al.European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.Journal of Clinical Immunology|June 29, 2020
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome PatientsFrancesco Saettini, Richard Herriot, Elisabetta Prada, et al.Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.Journal of Clinical Medicine|December 23, 2022
COVID-19 and Sickle Cell Disease in the Province of Quebec, Canada: Outcomes after Two Years of the PandemicMathias Castonguay, Nawar Dakhallah, Justin Desroches, et al.The Journal of Experimental Medicine|January 26, 2022
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisibGabriel Morin, Caroline Degrugillier-Chopinet, Marie Vincent, et al.Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.Prenatal Diagnosis|May 13, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotypeToan Nguyen, Solveig Heide, Lucie Guilbaud, et al.European Journal of Human Genetics : EJHG|November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumferenceAurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.Pageof 12