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Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Am J Med Genet A. 2024 Nov;194(11):e63802. doi: 10.1002/ajmg.a.63802. Epub 2024 Jun 25.
Am J Med Genet A. 2024.
PMID: 38924610
Clinical and radiological repercussions of plexiform neurofibroma in the pelvic region.
Slaibi ÉB, Daher JG, da Fonseca GG, Daher CM, Geller M, Ribeiro MG.
Slaibi ÉB, et al.
Radiol Bras. 2014 Sep-Oct;47(5):326-8. doi: 10.1590/0100-3984.2012.1648.
Radiol Bras. 2014.
PMID: 25741110
Free PMC article.
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p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
Pasqualim G, Ribeiro MG, da Fonseca GG, Szlago M, Schenone A, Lemes A, Rojas MV, Matte U, Giugliani R.
Pasqualim G, et al.
Clin Genet. 2015 Oct;88(4):376-80. doi: 10.1111/cge.12507. Epub 2014 Oct 21.
Clin Genet. 2015.
PMID: 25256405
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