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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Autor: Marakhonov AV; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation. marakhonov@generesearch.ru., Mishina IA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Kadyshev VV; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Repina SA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Shurygina MF; S. Fyodorov Eye Microsurgery Federal State Institution, Moscow, Russian Federation., Shchagina OA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Vasserman NN; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Vasilyeva TA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Kutsev SI; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation., Zinchenko RA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.; N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation.

Publikováno v: BMC medical genetics [BMC Med Genet] 2020 Oct 22; Vol. 21 (Suppl 1), pp. 156. Date of Electronic Publication: 2020 Oct 22.

[Coinheritance of chromosomes 3 and 11 in the patients with autosomal recessive polycythemia from Chuvachia].

Autor: Vasserman NN, Tverskaia SM, Poliakova AV

Publikováno v: Genetika [Genetika] 2005 Sep; Vol. 41 (9), pp. 1259-64.