Alexandra Y. Filatova

Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 56 publications

Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma.

Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 10, 2025

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.

Journal: Frontiers in genetics

Published: July 21, 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

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal: Journal of medical genetics

Published: March 19, 2025

uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.

uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.

Journal: Human genetics

Published: March 15, 2025

Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.

Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.

Journal: Epilepsia

Published: January 12, 2025

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

Journal: International journal of molecular sciences

Published: December 13, 2024

The Role of the Left Atrium in the Pathogenesis of Heart Failure With Preserved Ejection Fraction

The Role of the Left Atrium in the Pathogenesis of Heart Failure With Preserved Ejection Fraction

Journal: Kardiologiia

Published: October 28, 2024

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

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.

Journal: Journal of cellular and molecular medicine

Published: September 10, 2024

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Journal: International journal of molecular sciences

Published: September 09, 2024

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: July 29, 2024

Showing 1-12 of 56

Last Updated: 09/26/2026