Tatiana B. Cherevatova
Moscow, MOW 115522, Russian Federation
Last Updated: 09/26/2026
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Found 12 publications
A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
Journal: Genes
Published: May 17, 2026
Autosomal dominant dyskinesia associated with the ADCY5 gene
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: March 05, 2026
A Novel Variant of the ACTRT1 Gene Is Potentially Associated with Oligoasthenoteratozoospermia, Acrosome Detachment, and Fertilization Failure.
Journal: Genes
Published: November 10, 2025
Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.
Journal: Frontiers in genetics
Published: September 05, 2025
Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.
Journal: Frontiers in genetics
Published: July 21, 2025
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.
Journal: Clinical genetics
Published: May 07, 2025
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Journal: Orphanet journal of rare diseases
Published: April 26, 2025
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Journal: International journal of molecular sciences
Published: December 21, 2024
Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.
Journal: Frontiers in genetics
Published: April 09, 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Journal: Journal of clinical immunology
Published: December 02, 2023
Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: November 23, 2023
Molecular basis and genetics of hypohidrotic ectodermal dysplasias.
Journal: Vavilovskii zhurnal genetiki i selektsii
Published: August 19, 2022
Showing 1-12 of 12
Last Updated: 09/26/2026