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Page 1
Pure red cell aplasia and HIV infection: what to suspect?
BMJ Case Rep. 2018 Apr 21;2018:bcr2018224625. doi: 10.1136/bcr-2018-224625.
BMJ Case Rep. 2018.
PMID: 29680800
Free PMC article.
No abstract available.
Skin and coeliac disease, a lot to think about: a case series.
Vaz SO, Franco C, Santos P, Amaral R.
Vaz SO, et al.
BMJ Case Rep. 2018 Jan 4;2018:bcr2017222797. doi: 10.1136/bcr-2017-222797.
BMJ Case Rep. 2018.
PMID: 29301808
Free PMC article.
Item in Clipboard
Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.
Vaz SO, Dâmaso C, Liu L, Ozoemena L, Mota-Vieira L.
Vaz SO, et al.
Eur J Dermatol. 2018 Jun 1;28(3):412-413. doi: 10.1684/ejd.2018.3279.
Eur J Dermatol. 2018.
PMID: 29952287
No abstract available.
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Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
Pires R, Pires LM, Vaz SO, Maciel P, Anjos R, Moniz R, Branco CC, Cabral R, Carreira IM, Mota-Vieira L.
Pires R, et al. Among authors: vaz so.
BMC Genet. 2014 Nov 7;15:115. doi: 10.1186/s12863-014-0115-6.
BMC Genet. 2014.
PMID: 25376777
Free PMC article.
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A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, Mota-Vieira L.
Vaz SO, et al.
BMC Pediatr. 2015 Aug 22;15:95. doi: 10.1186/s12887-015-0417-5.
BMC Pediatr. 2015.
PMID: 26297018
Free PMC article.
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