Search Results - "Fadiushina, S. V."
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Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability
Published in European psychiatry (01-03-2023)“…IntroductionaCGH determines pathogenic copy number variations (CNVs) in about 10% of patients with intellectual disability (ID). In another 20% of patients,…”
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Prevalence of hereditary pathology in Altai Republic
Published in Genetika (01-10-2004)“…Medical genetic study of the population of Altai Republic (Russia) has been performed. The population sample comprises 203 148 subjects, including 59 196…”
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Epidemiology of congenital malformations in Gorno-Altaisk, Altai Republic, Russia
Published in Genetika (01-08-2004)“…A retrospective epidemiological study has been performed using the data from healthcare institutions of the city of Gorno-Altaisk, Altai Republic, Russia for…”
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