Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anna S. Bolshakova"'
Autor:
Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov, Gennady T. Sukhikh
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prog
Externí odkaz:
https://doaj.org/article/595c4972c1704c34ab1d35e4421f8c9a
Autor:
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
Publikováno v:
Genes, Vol 14, Iss 2, p 366 (2023)
Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (Clinica
Externí odkaz:
https://doaj.org/article/c7f8d624152d4241aad3520a47012c8b