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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Kashevarova, Anna A; Nikitina, Tatyana V; Mikhailik, Larisa I; Belyaeva, Elena O; Vasilyev, Stanislav A; Lopatkina, Mariya E; Fedotov, Dmitry A; Fonova, Elizaveta A; Zarubin, Aleksei A; Sivtsev, Aleksei A; Skryabin, Nikolay A; Nazarenko, Lyudmila P; Lebedev, Igor N.
Afiliação
  • Kashevarova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Nikitina TV; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Mikhailik LI; Regional Clinical Center for Specialized Medical Care, 690091 Vladivostok, Russia.
  • Belyaeva EO; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Vasilyev SA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Lopatkina ME; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Fedotov DA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Zarubin AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Sivtsev AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Skryabin NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Nazarenko LP; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
  • Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Genes (Basel) ; 11(12)2020 12 09.
Article em En | MEDLINE | ID: mdl-33316910

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Deficiência Intelectual / Hipotonia Muscular Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Federação Russa País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Deficiência Intelectual / Hipotonia Muscular Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Federação Russa País de publicação: Suíça