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Page 1
Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome".
Biomedicines. 2022 Feb 28;10(3):567. doi: 10.3390/biomedicines10030567.
Biomedicines. 2022.
PMID: 35327368
Free PMC article.
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.
Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA.
Rudenskaya GE, et al.
J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27.
J Pediatr Genet. 2019.
PMID: 31061747
Free PMC article.
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MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.
Varga RE, Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C.
Varga RE, et al. Among authors: rudenskaya ge.
Anal Biochem. 2012 Feb 15;421(2):799-801. doi: 10.1016/j.ab.2011.12.002. Epub 2011 Dec 9.
Anal Biochem. 2012.
PMID: 22222296
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