Natella V Sukhanova

5PUBLICATIONS
14CO-AUTHORS
Respiratory diseasesEpigenetics (incl. genome methylation and epigenomics)Pacific Peoples epidemiologyAdolescent health
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Journal

Publications (5)

|Oct 26, 2024
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Anastasia M Bobreshova, Sofya A Ionova, Vitaly V Kadyshev

|Jan 22, 2024
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).

Tatyana A Vasilyeva, Natella V Sukhanova, Olga V Khalanskaya

|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
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Tatyana A Vasilyeva, Andrey V Marakhonov, Anna A Voskresenskaya

|Nov 14, 2023
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.

Tatyana A Vasilyeva, Natella V Sukhanova, Andrey V Marakhonov

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Frequent Collaborators

5 joint publications

Andrey V Marakhonov

5 joint publications

Rena A Zinchenko

3 joint publications

Nadezhda V Shilova

3 joint publications

Vitaly V Kadyshev