Sergey I Kutsev - Laboratory of Molecular Biology, Research Centre for Medical Genetics

Andrey Marakhonov, Elena Serebryakova,Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya,Tatyana Vasilyeva, Victoria Zabnenkova,Oxana Ryzhkova,Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva,Alexander Koroteev,Rena Zinchenko, Sergey Voronin,Anna Shcherbina,Sergey Kutsev

International journal of molecular sciencesno. 19 (2024)

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

Journal of Clinical Immunologyno. 4 (2024): 1-9

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5 P Consortium “children’s Medicine”

N. D. Odinaeva,S. I. Kutsev,T. A. Ruzhentsova, O. P. Kovtun, D. A. Morozov,E. I. Kondratyeva

Archives of Pediatrics and Pediatric Surgeryno. 1 (2024): 6-23

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Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome

Anastasia M Bobreshova,Sofya A Ionova,Vitaly V Kadyshev, Natella V Sukhanova, Iuliia V Viakhireva, Alexandra Yu Filatova, Natalia V Zhurkova,Peter A Sparber, Andrey V Marakhonov,Tatyana A Vasilyeva,Olga A Shchagina,Sergey I Kutsev,Rena A Zinchenko

International journal of molecular sciencesno. 20 (2024)

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Common Variants in the TYR Gene with Unclear Pathogenicity As the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

Olga Shchagina,Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev,Nina Demina, Ludmila Bessonova,Sofya Ionova,Daria Guseva, Andrey Marakhonov,Rena Zinchenko,Sergey Kutsev,Aleksander Polyakov

Biomedicinesno. 10 (2024)

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Duchenne muscular dystrophy and its early diagnosis. relevance, problematics, possibilities, prospects

Т.А. Gremyakova, О.I. Gremyakova, E.V. Zinina, V.A. Gnetetskaya, M.Yu. Komarova,A.A. Stepanov,S.V. Voronin, A.V. Polyakov,E.Yu. Zakharova,N.D. Vashakmadze,S.I. Kutsev,A.G. Rumyantsev

Pediatria. Journal named after G.N. Speranskyno. 3 (2024): 96-110

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Rare Variants of the SMN1 Gene Detected During Neonatal Screening

Maria Akhkiamova,Aleksander Polyakov,Andrey Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya,Alena Chukhrova,Nina Ryadninskaya,Sergey Kutsev,Olga Shchagina

GENESno. 7 (2024)

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