Kristina A. Mikhalchuk
1 Moskvorechye St
Moscow, MOW 115522, Russian Federation
Moscow, MOW 115522, Russian Federation
Last Updated: 09/26/2026
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Found 8 publications
Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.
Journal: International journal of molecular sciences
Published: March 28, 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
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.
Journal: Molecular genetics & genomic medicine
Published: January 01, 2026
Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.
Journal: International journal of molecular sciences
Published: July 08, 2025
Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening.
Journal: International journal of molecular sciences
Published: December 31, 2024
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Journal: Clinical genetics
Published: December 02, 2024
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Journal: Pediatric neurology
Published: November 02, 2023
Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.
Journal: International journal of neonatal screening
Published: December 01, 2022
Showing 1-8 of 8
Last Updated: 09/26/2026