Nadezhda V Shilova

9PUBLICATIONS
54CO-AUTHORS
Infant and child healthNeonatologyEpigenetics (incl. genome methylation and epigenomics)Pacific Peoples epidemiologyAdolescent health
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Publications (9)

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

Ekaterina O Vorontsova, Aysylu Murtazina, Elena Zinina

|Oct 16, 2025
13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

Irina Efimova, Anna Mukhina, Zhanna Markova

|Sep 13, 2025
Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16.

Elizaveta Panchenko, Natalia Semenova, Olga Sereda

|Apr 05, 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina

|Dec 09, 2023
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Andrey V Marakhonov, Tatyana A Vasilyeva, Marina E Minzhenkova

|Nov 25, 2023
Trisomies Reorganize Human 3D Genome.

Irina V Zhegalova, Petr A Vasiluev, Ilya M Flyamer

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