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2019 1
2020 5
2021 0
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Page 1
A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father.
Olga S, Natalia S, Igor B, Alena C, Ekaterina Z, Oksana R, Zhanna M, Nadezhda S, Aleksander P. Olga S, et al. J Genet. 2020;99:29. J Genet. 2020. PMID: 32482918 Free article.
Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.
Beskorovainaya T, Konovalov F, Demina N, Shchagina O, Pashchenko M, Kanivets I, Pyankov D, Ryzhkova O, Polyakov A. Beskorovainaya T, et al. Among authors: shchagina o. J Autism Dev Disord. 2020 Aug 20. doi: 10.1007/s10803-020-04668-0. Online ahead of print. J Autism Dev Disord. 2020. PMID: 32816169 No abstract available.
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. Among authors: shchagina oa. 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.
A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A. Shchagina O, et al. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.
Sparber P, Sharova M, Filatova A, Shchagina O, Ivanova E, Dadali E, Skoblov M. Sparber P, et al. Among authors: shchagina o. BMC Med Genet. 2020 Oct 22;21(Suppl 1):197. doi: 10.1186/s12881-020-01128-5. BMC Med Genet. 2020. PMID: 33092578 Free PMC article.
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: shchagina oa. BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z. BMC Med Genet. 2020. PMID: 33092543 Free PMC article.
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