Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series
Bolshakova, Anna S, Maslennikov, Dmitry N, Shubina, Jekaterina, Bystritskiy, Andrey A, Tolmacheva, Ekaterina R, Mukosey, Irina S, Kochetkova, Taisiya O, Vasiliev, Grigory S, Atapina, Ekaterina E, Sadelov, Igor O, Zaretskaya, Nadezhda V, Barkov, Ilya Yu, Degtyarev, Dmitry N, Trofimov, Dmitry Yu
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Published in Journal of clinical pathology (01.11.2024)
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Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel
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Published in Frontiers in neurology (30.10.2017)
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In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X
Shubina, Jekaterina, Trofimov, Dmitry Yu, Barkov, Ilya Yu, Stupko, Olga K., Goltsov, Andrey Yu, Mukosey, Irina S., Tetruashvili, Nana K., Kim, Lyudmila V., Bakharev, Vladimir A., Karetnikova, Natalia A., Kochetkova, Taisya O., Krasheninnikova, Regina V., Bystritskiy, Andrey A., Sukhikh, Gennady T.
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Published in Prenatal diagnosis (01.12.2017)
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