Andrey V Marakhonov

53PUBLICATIONS
157CO-AUTHORS
Neurology and neuromuscular diseasesNeonatologyAdolescent healthAnthropological geneticsInfant and child health
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Publications (53)

|Jun 05, 2026
FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.

|Mar 14, 2026
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Tatyana Vasilyeva, Nataliya Kashirskaya, Anna Mukhina

|Dec 30, 2025
Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Rena Zinchenko, Inna Tebieva, Aysylu Murtazina

|Dec 30, 2025
First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia.

Ekaterina Nuzhnaya, Andrey Marakhonov, Artem Ivanov

|Dec 22, 2025
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev

|Oct 16, 2025
Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Ekaterina O Vorontsova, Aysylu Murtazina, Elena Zinina

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Frequent Collaborators

31 joint publications

Rena Zinchenko

14 joint publications

Olga Shchagina

9 joint publications

Vitaly V Kadyshev

7 joint publications

Alexandra Yu Filatova