Tatiana V. Markova
Moscow, MOW 115522, Russian Federation
Last Updated: 09/26/2026
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Found 37 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
Multiple Ossification Centers of the Pubic Bone as a Supportive Radiographic Feature for COL2A1-Related Congenital Spondyloepiphyseal Dysplasia.
Journal: Diagnostics (Basel, Switzerland)
Published: May 04, 2026
Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series.
Journal: Genes
Published: April 14, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretation.
Journal: Molecular omics
Published: December 01, 2025
Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.
Journal: International journal of molecular sciences
Published: November 29, 2025
Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.
Journal: Frontiers in medicine
Published: October 22, 2025
A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.
Journal: Clinics and practice
Published: September 28, 2025
Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.
Journal: Frontiers in genetics
Published: September 19, 2025
Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis.
Journal: Frontiers in genetics
Published: July 11, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.
Journal: International journal of molecular sciences
Published: June 03, 2025
Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.
Journal: Frontiers in medicine
Published: May 06, 2025
Last Updated: 09/26/2026