Ekaterina A. Nikolaeva

Ekaterina A. Nikolaeva

2, Taldomskaya St
Moscow, MOW 125412, Russian Federation

Last Updated: 09/26/2026

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Found 13 publications

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.

Journal: Translational pediatrics
Published: February 13, 2025

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

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

An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report.

An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report.

Journal: BMC medical genomics
Published: June 26, 2023

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Journal: International journal of molecular sciences
Published: December 05, 2022

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

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Journal: Mitochondrion
Published: July 14, 2020

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Journal: Molecular genetics & genomic medicine
Published: May 09, 2019

Diagnosis of microcirculation features in intestinal anastomosis to prevent its failure

Diagnosis of microcirculation features in intestinal anastomosis to prevent its failure

Journal: Khirurgiia
Published: March 12, 2019

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
Showing 1-12 of 13

Last Updated: 09/26/2026