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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Polygenic risk score and biochemical/environmental variables predict a low-risk profile of age-related macular degeneration in Sardinia.
Serra R, Rallo V, Pinna A, Steri M, Piras MG, Marongiu M, Coscas F, Gorospe M, Schlessinger D, Fiorillo E, Cucca F, Angius A. Serra R, et al. Among authors: angius a. Graefes Arch Clin Exp Ophthalmol. 2023 Mar;261(3):691-698. doi: 10.1007/s00417-022-05858-5. Epub 2022 Oct 20. Graefes Arch Clin Exp Ophthalmol. 2023. PMID: 36264335 Free PMC article.
146 results