Rena A. Zinchenko

Moskvorechie St, 1
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 104 publications

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an SLC19A2 c.1223+1G>A Founder Mutation.

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an SLC19A2 c.1223+1G>A Founder Mutation.

Journal: International journal of molecular sciences

Published: April 30, 2026

Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.

Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.

Journal: International journal of neonatal screening

Published: March 30, 2026

Hearing impairment in children with cystic fibrosis

Hearing impairment in children with cystic fibrosis

Journal: Vestnik otorinolaringologii

Published: March 01, 2026

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Journal: International journal of molecular sciences

Published: February 17, 2026

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Journal: Frontiers in immunology

Published: November 09, 2025

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Journal: Genes

Published: October 27, 2025

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

Journal: International journal of molecular sciences

Published: August 19, 2025

Cooperation of Transcription Factor PAX6 with Chromatin-Remodeling Complex BAF During Embryonic Development in Mammals.

Cooperation of Transcription Factor PAX6 with Chromatin-Remodeling Complex BAF During Embryonic Development in Mammals.

Journal: Cellular and molecular neurobiology

Published: July 20, 2025

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Journal: Pigment cell & melanoma research

Published: June 19, 2025

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.

Journal: Molecular syndromology

Published: June 05, 2025

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.

Journal: Journal of clinical laboratory analysis

Published: April 09, 2025

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Journal: Genes

Published: March 11, 2025

Showing 1-12 of 104

Last Updated: 09/26/2026