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EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV, Ryumina II, Botkina AS, Evtushenko NA, Zhigmitova EB, Martynova AA, Gurskaya NG, Rebrikov DV. Kosykh AV, et al. Among authors: rebrikov dv. Int J Mol Sci. 2024 Mar 4;25(5):2989. doi: 10.3390/ijms25052989. Int J Mol Sci. 2024. PMID: 38474236 Free PMC article.
Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
Tolmacheva E, Bolshakova AS, Shubina J, Rogacheva MS, Ekimov AN, Podurovskaya JL, Burov AA, Rebrikov DV, Bychenko VG, Trofimov DY, Sukhikh GT. Tolmacheva E, et al. Among authors: rebrikov dv. BMC Med Genomics. 2024 May 14;17(1):130. doi: 10.1186/s12920-024-01857-z. BMC Med Genomics. 2024. PMID: 38745205 Free PMC article.
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.
Kochetkova TO, Maslennikov DN, Tolmacheva ER, Shubina J, Bolshakova AS, Suvorova DI, Degtyareva AV, Orlovskaya IV, Kuznetsova MV, Rachkova AA, Sukhikh GT, Rebrikov DV, Trofimov DY. Kochetkova TO, et al. Among authors: rebrikov dv. Genes (Basel). 2023 Jan 31;14(2):366. doi: 10.3390/genes14020366. Genes (Basel). 2023. PMID: 36833293 Free PMC article.
Diplocloster agilis gen. nov., sp. nov. and Diplocloster modestus sp. nov., two novel anaerobic fermentative members of Lachnospiraceae isolated from human faeces.
Chaplin AV, Shcherbakova VA, Pikina AP, Sokolova SR, Korzhanova M, Belova VA, Korostin DO, Rebrikov DV, Kardonsky DA, Urban AS, Zakharzhevskaya NB, Suzina NE, Podoprigora IV, Das MS, Kholopova DO, Efimov BA. Chaplin AV, et al. Among authors: rebrikov dv. Int J Syst Evol Microbiol. 2022 Feb;72(2). doi: 10.1099/ijsem.0.005222. Int J Syst Evol Microbiol. 2022. PMID: 35133260
65 results