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The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, Maurer F, Sekarski N, Atallah I, Émeline D, Jeanrenaud X, Pruvot E, Fellay J, Superti-Furga A. Redin C, et al. Among authors: jeanrenaud x. Eur J Med Genet. 2022 Dec;65(12):104627. doi: 10.1016/j.ejmg.2022.104627. Epub 2022 Sep 24. Eur J Med Genet. 2022. PMID: 36162733 Free article.
[Multidisciplinary cardiogenetic counselling].
Fellmann F, Jeanrenaud X, Sekarski N, Michaud K, Hersch D, Fodstad H, Bhuiyan ZA, Schläpfer J. Fellmann F, et al. Among authors: jeanrenaud x. Rev Med Suisse. 2017 May 24;13(564):1094-1099. Rev Med Suisse. 2017. PMID: 28639772 French.
[Cardiomyopathy and cardiac magnetic resonance].
Locca D, Jeanrenaud X, Schwitter J, Girod G, Monney P, De Palma R, Rizzo E, Prasad SK, Vogt P. Locca D, et al. Among authors: jeanrenaud x. Rev Med Suisse. 2009 Oct 14;5(221):2051-7. Rev Med Suisse. 2009. PMID: 19911692 French.
63 results