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Decreased TREC and KREC levels in newborns with trisomy 21.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1468635
By:
- Marakhonov, Andrey;
- Mukhina, Anna;
- Vlasova, Elena;
- Efimova, Irina;
- Balinova, Natalya;
- Rodina, Yulia;
- Pershin, Dmitry;
- Markova, Zhanna;
- Minzhenkova, Marina;
- Shilova, Nadezhda;
- Mudaeva, Dzhaina;
- Saydaeva, Djamila;
- Irbaieva, Taisiya;
- Matulevich, Svetlana;
- Belyashova, Elena;
- Yakubovskiy, Grigoriy;
- Tebieva, Inna;
- Gabisova, Yulia;
- Ikaev, Murat;
- Irinina, Nataliya
Publication type:
Article
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4515, doi. 10.3390/ijms24054515
By:
- Vasilyeva, Tatyana A.;
- Marakhonov, Andrey V.;
- Tebieva, Inna S.;
- Kadyshev, Vitaly V.;
- Borovikov, Artem O.;
- Markova, Zhanna G.;
- Chukhrova, Alyona L.;
- Ginter, Evgeny K.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Published in:
2022
By:
- Ionova, Sofya A.;
- Murtazina, Aysylu F.;
- Tebieva, Inna S.;
- Getoeva, Zalina K.;
- Dadali, Elena L.;
- Chausova, Polina A.;
- Shchagina, Olga A.;
- Marakhonov, Andrey V.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Case Study
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1146768
By:
- Makretskaya, Nina;
- Kalinchenko, Natalia;
- Tebieva, Inna;
- Ionova, Sofya;
- Zinchenko, Rena;
- Marakhonov, Andrey;
- Tiulpakov, Anatoly
Publication type:
Article
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.
Published in:
PeerJ, 2023, p. 1, doi. 10.7717/peerj.14514
By:
- Petrova, Nika;
- Tebieva, Inna;
- Kadyshev, Vitaly;
- Getoeva, Zalina;
- Balinova, Natalia;
- Marakhonov, Andrey;
- Vasilyeva, Tatyana;
- Ginter, Evgeny;
- Kutsev, Sergey;
- Zinchenko, Rena
Publication type:
Article
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.
Published in:
2024
By:
- Ionova, Sofya A.;
- Murtazina, Aysylu F.;
- Marakhonov, Andrey A.;
- Shchagina, Olga A.;
- Ryadninskaya, Nina V.;
- Tebieva, Inna S.;
- Kadyshev, Vitaly V.;
- Borovikov, Artem O.;
- Ginter, Evgeny K.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Case Study
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4598, doi. 10.3390/ijms25094598
By:
- Tebieva, Inna S.;
- Mishakova, Polina V.;
- Gabisova, Yulia V.;
- Khokhova, Alana V.;
- Kaloeva, Tamara G.;
- Marakhonov, Andrey V.;
- Shchagina, Olga A.;
- Polyakov, Alexander V.;
- Ginter, Evgeny K.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article

Found: 7

Decreased TREC and KREC levels in newborns with trisomy 21.

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report.

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.

The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.