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2022 | 1 |
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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30.
Eur J Med Genet. 2023.
PMID: 37003574
Free article.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J.
Alonso-Pérez J, et al.
Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301.
Brain. 2022.
PMID: 34515763
Free PMC article.
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