Alla N. Semyachkina

Alla N. Semyachkina

2, Taldomskaya St
Moscow, MOW 125412, Russian Federation

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.

Journal: Journal of medical case reports
Published: January 04, 2025

A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers.

A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers.

Journal: Cardiovascular diagnosis and therapy
Published: September 16, 2024

The Contribution of Mast Cells to the Regulation of Elastic Fiber Tensometry in the Skin Dermis of Children with Marfan Syndrome.

The Contribution of Mast Cells to the Regulation of Elastic Fiber Tensometry in the Skin Dermis of Children with Marfan Syndrome.

Journal: International journal of molecular sciences
Published: July 12, 2024

Skin mast cells in Marfan syndrome: specific emphasis on connective tissue remodeling.

Skin mast cells in Marfan syndrome: specific emphasis on connective tissue remodeling.

Journal: Archives of dermatological research
Published: August 29, 2023

Classification of Infiltrative Heart Diseases MORAL-STAGE System.

Classification of Infiltrative Heart Diseases MORAL-STAGE System.

Journal: Clinical Medicine Insights. Cardiology
Published: August 17, 2023

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Journal: Frontiers in molecular biosciences
Published: September 26, 2021

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Journal: Frontiers in molecular biosciences
Published: September 20, 2021

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.

Journal: F1000Research
Published: June 15, 2021

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Journal: BMC medical genomics
Published: December 18, 2020

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

Journal: BMC medical genetics
Published: November 15, 2018

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

Journal: Molecular genetics and metabolism reports
Published: July 31, 2017

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

Journal: Molecular genetics and metabolism reports
Published: November 17, 2016
Showing 1-12 of 13

Last Updated: 09/26/2026