Anna Orlova

11PUBLICATIONS
79CO-AUTHORS
Neurology and neuromuscular diseasesMedical virologyNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Cancer diagnosis
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Publications (11)

|Jul 03, 2026
Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

|Jun 12, 2026
A Rare Clinical Presentation of Variegate Porphyria.

|Nov 27, 2025
Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.

Ekaterina Nuzhnaya, Margarita Sharova, Uliana Chubykina

|Jul 29, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Daria Gorodilova, Elena Dadali, Vladimir Kenis

|Apr 14, 2025
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Artem Borovikov, Nailya Galeeva, Andrey Marakhonov

|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

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Frequent Collaborators

6 joint publications

Oхana Ryzkova

4 joint publications

Olga Shchagina

3 joint publications

Tatiana Markova

3 joint publications

Aysylu Murtazina