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A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Among authors: levy n. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.
Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM. Sousa SB, et al. Among authors: levy n. Am J Med Genet A. 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. Am J Med Genet A. 2008. PMID: 18837045 Free article. Review.
The Hopkins-Oxford Psychedelics Ethics (HOPE) Working Group Consensus Statement.
Jacobs E, Earp BD, Appelbaum PS, Bruce L, Cassidy K, Celidwen Y, Cheung K, Clancy SK, Devenot N, Evans J, Lynch HF, Friesen P, Romeu AG, Gehani N, Maloof M, Marcus O, Martin Moen O, Mertens M, Nayak SM, Noorani T, Patch K, Porsdam-Mann S, Raj G, Rajwani K, Ray K, Smith W, Villiger D, Levy N, Crisp R, Savulescu J, Singh I, Yaden DB. Jacobs E, et al. Among authors: levy n. Am J Bioeth. 2024 May 2:1-7. doi: 10.1080/15265161.2024.2342764. Online ahead of print. Am J Bioeth. 2024. PMID: 38695382 No abstract available.
1,117 results