Anna V. Orlova

Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 15 publications

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Journal: Clinical genetics
Published: November 27, 2025

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.

Journal: Genes
Published: September 10, 2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

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

Spectrum of Mutations in PTPN11 in Russian Cohort.

Spectrum of Mutations in PTPN11 in Russian Cohort.

Journal: Genes
Published: January 29, 2024

Comparison of glycosyl donors: a supramer approach.

Comparison of glycosyl donors: a supramer approach.

Journal: Beilstein journal of organic chemistry
Published: September 24, 2023

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Journal: Human mutation
Published: June 09, 2023

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Journal: Genes
Published: September 13, 2022

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Journal: Genes
Published: July 24, 2022

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Journal: Genes
Published: December 08, 2021

Exhaustive Conformational Search for Sialyl Cation Reveals Possibility of Remote Participation of Acyl Groups.

Exhaustive Conformational Search for Sialyl Cation Reveals Possibility of Remote Participation of Acyl Groups.

Journal: Chemphyschem : a European journal of chemical physics and physical chemistry
Published: November 04, 2021

The use of the novel glycosyl acceptor and supramer analysis in the synthesis of sialyl-α(2-3)-galactose building block.

The use of the novel glycosyl acceptor and supramer analysis in the synthesis of sialyl-α(2-3)-galactose building block.

Journal: Carbohydrate research
Published: September 15, 2018

Using a personalized clinical decision support system for bromdihydrochlorphenylbenzodiazepine dosing in patients with anxiety disorders based on the pharmacogenomic markers.

Using a personalized clinical decision support system for bromdihydrochlorphenylbenzodiazepine dosing in patients with anxiety disorders based on the pharmacogenomic markers.

Journal: Human psychopharmacology
Published: June 22, 2018
Showing 1-12 of 15

Last Updated: 09/26/2026