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A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.
Eur J Med Genet. 2021 Nov;64(11):104319. doi: 10.1016/j.ejmg.2021.104319. Epub 2021 Aug 30.
Eur J Med Genet. 2021.
PMID: 34474176
Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.
Diniz BL, Santos AS, Glaeser AB, Guaraná BB, Lorea CF, Josahkian JA, Huber J, Rosa RFM, Zen PRG.
Diniz BL, et al. Among authors: guarana bb.
J Pediatr Genet. 2020 Dec;9(4):227-234. doi: 10.1055/s-0040-1713155. Epub 2020 Jun 17.
J Pediatr Genet. 2020.
PMID: 32733742
Free PMC article.
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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case.
Diniz BL, Glaeser AB, Deconte D, Guaraná BB, Rosa RFM, Zen PRG.
Diniz BL, et al. Among authors: guarana bb.
J Pediatr Genet. 2021 Mar;10(1):45-48. doi: 10.1055/s-0040-1701640. Epub 2020 Feb 12.
J Pediatr Genet. 2021.
PMID: 33552638
Free PMC article.
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Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.
Diniz BL, Deconte D, Gadelha KA, Glaeser AB, Guaraná BB, de Moura AÁ, Rosa RFM, Zen PRG.
Diniz BL, et al. Among authors: guarana bb.
J Pediatr Genet. 2023 Feb 17;12(2):113-122. doi: 10.1055/s-0043-1763258. eCollection 2023 Jun.
J Pediatr Genet. 2023.
PMID: 37090828
Free PMC article.
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