Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review
Shubina, Jekaterina, Barkov, Ilya Y., Stupko, Olga K., Kuznetsova, Maria V., Goltsov, Andrey Y., Kochetkova, Taisya O., Trofimov, Dmitry Y., Sukhikh, Gennady T.
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
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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.
Published in Prenatal diagnosis (01.12.2017)
Published in Prenatal diagnosis (01.12.2017)
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WES-based screening of 7,000 newborns: A pilot study in Russia
Shubina, Jekaterina, Tolmacheva, Ekaterina, Maslennikov, Dmitry, Kochetkova, Taisiya, Mukosey, Irina, Sadelov, Igor, Goltsov, Andrey, Barkov, Ilya, Ekimov, Aleksey, Rogacheva, Margarita, Stupko, Olga, Pavlova, Nadezhda, Kuznetsova, Maria, Dokshukina, Alina, Vasiliev, Grigory, Bolshakova, Anna, Kovalskaia, Valeriia, Korovko, Anastasia, Pomerantseva, Ekaterina, Tsabai, Polina, Buyanovskaya, Olga, Zaretskaya, Nadezhda, Karetnikova, Natalia, Grebenshchikova, Elena, Degtyareva, Anna, Bokerija, Ekaterina, Kholin, Alexey, Rebrikov, Denis, Degtyarev, Dmitry, Trofimov, Dmitriy, Sukhih, Gennady
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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