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CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report.
Tolmacheva, Ekaterina R; Shubina, Jekaterina; Kochetkova, Taisiya O; Ushakova, Lubov' V; Bokerija, Ekaterina L; Vasiliev, Grigory S; Mikhaylovskaya, Galina V; Atapina, Ekaterina E; Zaretskaya, Nadezhda V; Sukhikh, Gennady T; Rebrikov, Denis V; Trofimov, Dmitriy Yu.
Afiliación
  • Tolmacheva ER; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Shubina J; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Kochetkova TO; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Ushakova LV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Bokerija EL; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Vasiliev GS; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Mikhaylovskaya GV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Atapina EE; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Zaretskaya NV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Sukhikh GT; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Rebrikov DV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Trofimov DY; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
Genes (Basel) ; 14(6)2023 05 28.
Article en En | MEDLINE | ID: mdl-37372357

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans / Newborn Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Rusia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans / Newborn Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Rusia