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Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.
Eur J Med Genet. 2008 Nov-Dec;51(6):547-57. doi: 10.1016/j.ejmg.2008.07.003. Epub 2008 Jul 22.
Eur J Med Genet. 2008.
PMID: 18692163
Genetic compensation in a human genomic disorder.
Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guérin E, Kuhn P, Arrivé M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frébourg T, Flori E.
Carelle-Calmels N, et al.
N Engl J Med. 2009 Mar 19;360(12):1211-6. doi: 10.1056/NEJMoa0806544.
N Engl J Med. 2009.
PMID: 19297573
Free article.
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Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome.
Sananes N, Guigue V, Vayssiere C, Kohler M, Girard-Lemaire F, Flori E, Carelle-Calmels N, Boehm N, Samama B, Doray B, Favre R.
Sananes N, et al. Among authors: carelle calmels n.
J Matern Fetal Neonatal Med. 2010 Jun;23(6):558-62. doi: 10.3109/14767050903214558.
J Matern Fetal Neonatal Med. 2010.
PMID: 19718583
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The in vivo mitochondrial two-step maturation of human frataxin.
Schmucker S, Argentini M, Carelle-Calmels N, Martelli A, Puccio H.
Schmucker S, et al. Among authors: carelle calmels n.
Hum Mol Genet. 2008 Nov 15;17(22):3521-31. doi: 10.1093/hmg/ddn244. Epub 2008 Aug 25.
Hum Mol Genet. 2008.
PMID: 18725397
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