Victoria Y. Voinova

Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 18 publications

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.

Journal: Journal of medical case reports

Published: January 04, 2025

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 19, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.

Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.

Journal: Molecular autism

Published: July 26, 2023

Atypical brain responses to 40-Hz click trains in girls with Rett syndrome: Auditory steady-state response and sustained wave.

Atypical brain responses to 40-Hz click trains in girls with Rett syndrome: Auditory steady-state response and sustained wave.

Journal: Psychiatry and clinical neurosciences

Published: June 27, 2023

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome.

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome.

Journal: Scientific reports

Published: November 14, 2022

Clinical EEG of Rett Syndrome: Group Analysis Supplemented with Longitudinal Case Report.

Clinical EEG of Rett Syndrome: Group Analysis Supplemented with Longitudinal Case Report.

Journal: Journal of personalized medicine

Published: September 21, 2022

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Journal: International journal of molecular sciences

Published: September 05, 2022

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Journal: International journal of molecular sciences

Published: May 20, 2022

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Journal: Brain : a journal of neurology

Published: October 08, 2021

40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication.

40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication.

Journal: International journal of molecular sciences

Published: January 12, 2021

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Journal: American journal of human genetics

Published: April 02, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026