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Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S, Focșa IO, Budișteanu M, Stoica C, Nedelea F, Bohîlțea L, Caba L, Butnariu L, Pânzaru M, Rusu C, Jurcă C, Chirita-Emandi A, Bănescu C, Abbas W, Sadeghpour A, Baig SM, Bălgrădean M, Davis EE. Khan S, et al. Among authors: caba l. 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
[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
Pânzaru M, Rusu C, Voloşciuc M, Braha E, Butnariu L, Ivanov I, Grămescu M, Popescu R, Caba L, Sireteanu A, Macovei M, Covic M, Gorduza EV. Pânzaru M, et al. Among authors: caba l. Rev Med Chir Soc Med Nat Iasi. 2011 Jul-Sep;115(3):756-61. Rev Med Chir Soc Med Nat Iasi. 2011. PMID: 22046783 Romanian.
Ring autosomes: some unexpected findings.
Caba L, Rusu C, Plăiaşu 5th, Gug G, Grămescu M, Bujoran C, Ochiană D, Voloşciuc M, Popescu R, Braha E, Pânzaru M, Butnariu L, Sireteanu A, Covic M, Gorduza E. Caba L, et al. Balkan J Med Genet. 2012 Dec;15(2):35-46. doi: 10.2478/bjmg-2013-0005. Balkan J Med Genet. 2012. PMID: 24052730 Free PMC article.
Phenotypic variability in Patau syndrome.
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV. Caba L, et al. Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7. Rev Med Chir Soc Med Nat Iasi. 2013. PMID: 24340511
A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.
Popescu R, Grămescu M, Caba L, Pânzaru MC, Butnariu L, Braha E, Popa S, Rusu C, Cardos G, Zeleniuc M, Martiniuc V, Gug C, Păduraru L, Stamatin M, Diaconu CC, Gorduza EV. Popescu R, et al. Among authors: caba l. Genes (Basel). 2021 Dec 7;12(12):1957. doi: 10.3390/genes12121957. Genes (Basel). 2021. PMID: 34946906 Free PMC article. Review.
39 results