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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19.
J Med Genet. 2009.
PMID: 18805826
Overgrowth syndromes: a classification.
Neri G, Moscarda M.
Neri G, et al. Among authors: moscarda m.
Endocr Dev. 2009;14:53-60. doi: 10.1159/000207476.
Endocr Dev. 2009.
PMID: 19293574
Review.
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Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
Nillesen WM, Yntema HG, Moscarda M, Verbeek NE, Wilson LC, Cowan F, Schepens M, Raas-Rothschild A, Gafni-Weinstein O, Zollino M, Vijzelaar R, Neri G, Nelen M, Bokhoven Hv, Giltay J, Kleefstra T.
Nillesen WM, et al. Among authors: moscarda m.
Hum Mutat. 2011 Jul;32(7):853-9. doi: 10.1002/humu.21523.
Hum Mutat. 2011.
PMID: 21538692
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