Kristina Mikhalchuk

6PUBLICATIONS
31CO-AUTHORS
Gene mappingNeonatologyDevelopmental genetics (incl. sex determination)Molecular medicine
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Publications (6)

|Mar 14, 2026
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Tatyana Vasilyeva, Nataliya Kashirskaya, Anna Mukhina

|Aug 28, 2025
Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Maria A Akhkiamova, Andrey V Marakhonov, Victoria V Zabnenkova

|Mar 13, 2025
Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening.

Kristina Mikhalchuk, Aleksander Polyakov, Viktoria V Zabnenkova

|Jul 27, 2024
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.

Maria Akhkiamova, Aleksander Polyakov, Andrey Marakhonov

|May 23, 2023
Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

Kristina Mikhalchuk, Olga Shchagina, Alena Chukhrova

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