Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene.

Autor: Parfenenko MA; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia. masha.parfenenko@student.msu.ru., Dantsev IS; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia., Bochenkov SV; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia., Kuramagomedova RG; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia., Vinogradova NV; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia., Afanaseva MP; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia., Groznova OS; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia., Voinova VI; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia.

Publikováno v: Neurogenetics [Neurogenetics] 2024 Nov 22; Vol. 26 (1), pp. 4. Date of Electronic Publication: 2024 Nov 22.

CASCADE GENETIC SCREENING FOR DIAGNOSTICS OF PRECLINICAL FORMS OF FABRY DISEASE IN CHILDREN.

Autor: V. M., TRIPELETS, N. L. G., KHACHATRYA, O. V., BYKOVA, O. B., KONDAKOVA, E. N., TYURINA, L. S., STAROSTINA, E. V., KASANAVE, D. E., AREYAN

Publikováno v: New Armenian Medical Journal; Sep2020, Vol. 14 Issue 3, p66-72, 7p