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CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report by Ekaterina R. Tolmacheva, Jekaterina Shubina, Taisiya O. Kochetkova, Lubov’ V. Ushakova, Ekaterina L. Bokerija, Grigory S. Vasiliev, Galina V. Mikhaylovskaya, Ekaterina E. Atapina, Nadezhda V. Zaretskaya, Gennady T. Sukhikh, Denis V. Rebrikov, Dmitriy Yu. Trofimov
Published 2023-05-01
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De Novo Variant in the <i>KCNJ9</i> Gene as a Possible Cause of Neonatal Seizures by Taisiya O. Kochetkova, Dmitry N. Maslennikov, Ekaterina R. Tolmacheva, Jekaterina Shubina, Anna S. Bolshakova, Dzhenneta I. Suvorova, Anna V. Degtyareva, Irina V. Orlovskaya, Maria V. Kuznetsova, Anastasia A. Rachkova, Gennady T. Sukhikh, Denis V. Rebrikov, Dmitriy Yu. Trofimov
Published 2023-01-01
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Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice by Valentina V. Miroshnikova, Petr A. Vasiluev, Svetlana V. Linkova, Vladislav M. Soloviov, Olga N. Ivanova, Ekaterina R. Tolmacheva, Vasilisa Y. Udalova, Polina V. Baranova, Darya Y. Aleksandrova, Tatiana V. Strokova, Irina M. Miklashevich, Artem D. Izumchenko, Kseniia V. Dracheva, Maria N. Grunina, Nataliya N. Smirnova, Anna S. Kuchina, Ekaterina Y. Zakharova, Sofya N. Pchelina
Published 2023-10-01
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