France (FR)

Expanding the spectrum of WDR62 mutations : description of new cases (2020) Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al. Conference contribution Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster (2020) Gregor A, Meerbrei T, Distel L, Gerstner T, Gupta A, Toutain A, Lynch SA, et al. Conference contribution Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype (2020) Zanoni P, Steindl K, Sengupta D, Sticht H, Joset P, Baar A, Van Ravenswaaij-Arts CMA, et al. Conference contribution Exome Pool-Seq Reloaded (2020) Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al. Conference contribution Phenotypic presentation of two additional individuals with heterozygous variants in BRSK2 (2020) Kemmer H, Popp B, Verloes A, Horn D, Holtgrewe M, Zweier C, Ehmke N Conference contribution Sharing of decision-making for infective endocarditis surgery: a narrative review of clinical and ethical implications (2020) Pollari F, Spadaccio C, Cuomo M, Chello M, Nenna A, Fischlein T, Nappi F Journal article, Review article Defining dry eye from a clinical perspective (2020) Tsubota K, Pflugfelder SC, Liu Z, Baudouin C, Kim HM, Messmer EM, Kruse F, et al. Journal article, Review article Clinical Characteristics and Outcome of Children With Wagr Syndrome and Wilms Tumor Identified through SIOP-RTSG Registries (2020) Hol JA, Jongmans MCJ, Sudour-Bonnange H, Ramirez-Villar GL, Chowdhury T, Rechnitzer C, Pal N, et al. Conference contribution Pediatric Mesothelioma Tumors: The European Expert Group Contribution (2020) Orbach D, Andre N, Brecht I, Lopez Almaraz R, Ben Ami T, Wermersch S, Carton M, et al. Conference contribution Application of an iterative Golub-Kahan algorithm to structural mechanics problems with multi-point constraints (2020) Kruse C, Darrigrand V, Tardieu N, Arioli M, Rüde U Journal article