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A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC Pediatr. 2024 Jan 15;24(1):47. doi: 10.1186/s12887-023-04509-w.
BMC Pediatr. 2024.
PMID: 38225558
Free PMC article.
[Diagnosis of MECP2 duplication in a child and prenatally].
Bokor BA, Török D, Horváth E, László Z, Pál M, Szűcs P, Széll M.
Bokor BA, et al.
Orv Hetil. 2024 Jan 7;165(1):30-34. doi: 10.1556/650.2024.32956. Print 2024 Jan 7.
Orv Hetil. 2024.
PMID: 38189840
Hungarian.
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Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
Pál M, Vetró É, Nagy N, Nagy D, Horváth E, Bokor BA, Varga A, Seres L, Oláh J, Piffkó J, Széll M.
Pál M, et al. Among authors: bokor ba.
Curr Issues Mol Biol. 2023 Jun 24;45(7):5293-5304. doi: 10.3390/cimb45070336.
Curr Issues Mol Biol. 2023.
PMID: 37504252
Free PMC article.
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