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Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A. 2023 Sep;191(9):2376-2391. doi: 10.1002/ajmg.a.63322. Epub 2023 Jun 9.
Am J Med Genet A. 2023.
PMID: 37293956
A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.
Focșa IO, Budișteanu M, Burloiu C, Khan S, Sadeghpour A, Bohîlțea LC, Davis EE, Bălgrădean M.
Focșa IO, et al.
Biomed Rep. 2021 Dec;15(6):103. doi: 10.3892/br.2021.1479. Epub 2021 Oct 21.
Biomed Rep. 2021.
PMID: 34760276
Free PMC article.
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Clinical and genetic heterogeneity of primary ciliopathies (Review).
Focșa IO, Budișteanu M, Bălgrădean M.
Focșa IO, et al.
Int J Mol Med. 2021 Sep;48(3):176. doi: 10.3892/ijmm.2021.5009. Epub 2021 Jul 19.
Int J Mol Med. 2021.
PMID: 34278440
Free PMC article.
Review.
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Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.
Budişteanu M, Burloiu CM, Papuc SM, Focşa IO, Riga D, Riga S, Arghir A.
Budişteanu M, et al. Among authors: focsa io.
Rom J Morphol Embryol. 2019;60(2):713-716.
Rom J Morphol Embryol. 2019.
PMID: 31658349
Free article.
Review.
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