Andrey V Marakhonov

55PUBLICATIONS
164CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsImmunogenetics (incl. genetic immunology)Neurology and neuromuscular diseasesNeonatologyAdolescent health
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Publications (55)

|Sep 30, 2026
Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability.

|Aug 26, 2026
Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.

|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

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Frequent Collaborators

32 joint publications

Rena Zinchenko

14 joint publications

Olga Shchagina

9 joint publications

Vitaly V Kadyshev

7 joint publications

Alexandra Yu Filatova