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Clinical Genetics|May 20, 2023
Morphological and genetic causes of fetal cardiomyopathiesEva Kohaut, Flavie Ader, Caroline Rooryck, et al.Archives of Neurology|May 19, 2004
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variantEugenio Mercuri, Maja Poppe, Ros Quinlivan, et al.Journal of Medical Genetics|October 9, 2010
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencingKaren Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, et al.Neurogenetics|December 4, 2003
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi, Chahnez Triki, Susana Quijano-Roy, et al.Vox Sanguinis|May 16, 2022
Reduced neutralizing antibody potency of COVID-19 convalescent vaccinated plasma against SARS-CoV-2 Omicron variantPierre Gallian, Abdennour Amroun, Syria Laperche, et al.Clinical Genetics|October 31, 2023
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosisClaire Perret, Carole Proust, Ulrike Esslinger, et al.Neuromuscular Disorders : NMD|December 7, 2002
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophyMichal Vytopil, Enzo Ricci, Antonio Dello Russo, et al.Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|August 9, 2024
Syphilis testing in blood donors, France, 2007 to 2022Syria Laperche, Claire Sauvage, Sophie Le Cam, et al.Clinical Case Reports|September 6, 2021
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorderMalika Foy, Philippe De Mazancourt, Corinne Métay, et al.Emerging Infectious Diseases|December 25, 2009
Reemergence of syphilis in Martinique, 2001-2008André Cabié, Bruno Rollin, Sandrine Pierre-François, et al.Pageof 16