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Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Am J Med Genet A. 2024 Jun;194(6):e63534. doi: 10.1002/ajmg.a.63534. Epub 2024 Feb 6.
Am J Med Genet A. 2024.
PMID: 38318947
Review.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B.
Di Feo MF, et al.
J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28.
J Med Genet. 2023.
PMID: 36977548
Free article.
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Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.
Di Feo MF, Bettio C, Salsi V, Bertucci E, Tupler R.
Di Feo MF, et al.
Health Sci Rep. 2022 Apr 20;5(3):e614. doi: 10.1002/hsr2.614. eCollection 2022 May.
Health Sci Rep. 2022.
PMID: 35509380
Free PMC article.
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