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European Journal of Medical Genetics|January 22, 2025
Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case reportAuriane Mouchez, Célia Hoebeke, Béatrice Desnous, et al.Annales De Pathologie|October 11, 2020
[Point of view: A lesson from lockdown, histopathology through videoconferencing]Clémence Delteil, Aurélie Haffner, Radia Fritih, et al.Journal of Gynecology Obstetrics and Human Reproduction|July 25, 2022
Limb ischaemia at birth in a new-born whose mother tested positive for COVID-19 one month before deliveryLéa Fantino, Carole Anne Pisa, Michael Tsapis, et al.Annales De Pathologie|August 1, 2020
[Low grade glioma with MYBL1 alteration: Case report of an uncommon pediatric neoplasm]Romain Appay, Arnault Tauziède-Espariat, Karen Silva, et al.Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|September 23, 2021
Congenital Infection of Severe Acute Respiratory Syndrome Coronavirus 2 With Intrauterine Fetal Death: A Clinicopathological Study With Molecular AnalysisEmmanuelle Lesieur, Julia Torrents, Frédéric Fina, et al.Orphanet Journal of Rare Diseases|November 22, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impactCeline Leon, Marie-Françoise Odou, Bertrand Roquelaure, et al.Clinical Genetics|July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate geneClarisse Billon, Arnaud Molin, Céline Poirsier, et al.Pageof 1