Peter Sparber

21PUBLICATIONS
97CO-AUTHORS
Gene mappingCancer geneticsInfant and child healthSensory systemsCancer diagnosis
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Publications (21)

|May 27, 2026
Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.

|Dec 24, 2025
Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.

Almaqdad Alsalloum, Natalia Mingaleva, Ekaterina Gornostal

|Oct 06, 2025
[Modern approaches to the diagnosis and treatment of Dravet syndrome in the Russian Federation. (Literature review and resolution of the Expert Council)].

V I Guzeva, S I Kutsev, A S Petrukhin

|May 13, 2025
Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain.

Peter Sparber, Nikolai Zernov, Tatiana Markova

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

Artem Borovikov, Nailya Galeeva, Andrey Marakhonov

|Dec 10, 2024
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Peter Sparber, Evgeniia Ulas, Alexandra Filatova

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Frequent Collaborators

6 joint publications

Mikhail Yu Skoblov

5 joint publications

Olga Shchagina

5 joint publications

Alexandra Yu Filatova

5 joint publications

Oxana Ryzhkova