 | Up a level |
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; ... (2024). Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. (In Press). European journal of human genetics Springer Nature 10.1038/s41431-024-01606-x
Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; Kuentz, Paul; Albuisson, Juliette; Borradori, Luca; Bourrat, Emmanuelle; Boute, Odile; Bukvic, Nenad; Bursztejn, Anne-Claire; Chiaverini, Christine; Delobel, Bruno; Fournet, Marine; Martel, Jehanne; Goldenberg, Alice; Hadj-Rabia, Smaïl; Mahé, Antoine; Maruani, Annabel; Mazereeuw, Juliette; Mignot, Cyril; ... (2020). Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. Journal of investigative dermatology, 140(5), 1106-1110.e2. Elsevier 10.1016/j.jid.2019.08.455
