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Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N. Plaisancié J, et al. Among authors: martinovic j. J Med Genet. 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. J Med Genet. 2023. PMID: 37586836
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: martinovic j. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Investigating light sensitivity in bipolar disorder (HELIOS-BD).
Roguski A, Needham N, MacGillivray T, Martinovic J, Dhillon B, Riha RL, Armstrong L, Campbell IH, Ferguson A, Hilgen G, Lako M, Ritter P, Santhi N, von Schantz M, Spitschan M, Smith DJ. Roguski A, et al. Among authors: martinovic j. Wellcome Open Res. 2024 Feb 19;9:64. doi: 10.12688/wellcomeopenres.20557.1. eCollection 2024. Wellcome Open Res. 2024. PMID: 38716042 Free PMC article.
286 results