Iuliia V. Viakhireva
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
A Rare Clinical Presentation of Variegate Porphyria.
Journal: Molecular genetics & genomic medicine
Published: September 11, 2025
Exploring the clinical and mutational spectrum of MORC2-associated disorders.
Journal: Journal of medical genetics
Published: March 19, 2025
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Journal: International journal of molecular sciences
Published: September 09, 2024
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
Journal: Bone
Published: September 22, 2023
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Journal: International journal of molecular sciences
Published: August 02, 2022
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 30, 2022
Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level.
Journal: International journal of molecular sciences
Published: July 19, 2021
Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.
Journal: Familial cancer
Published: April 17, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026