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Clinical Genetics
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January 19, 2021
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
Andrey V Marakhonov, Magdalena Přechová, Fedor A Konovalov, et al.
Clinical Genetics
|
March 22, 2017
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
T A Vasilyeva, A A Voskresenskaya, B Käsmann-Kellner, et al.
Genes
|
November 25, 2023
Epidemiology of <i>PAX6</i> Gene Pathogenic Variants and Expected Prevalence of <i>PAX6</i>-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
Tatyana A Vasilyeva, Andrey V Marakhonov, Anna A Voskresenskaya, et al.
International Journal of Molecular Sciences
|
September 14, 2024
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Sofya A Ionova, Aysylu F Murtazina, Andrey A Marakhonov, et al.
Bulletin of Experimental Biology and Medicine
|
October 25, 2018
Peculiarities of the Formation of Antimeningococcus Immunity in Mice Immunized with Fragments of N. meningitidis IgA1 Protease
O V Kotel'nikova, A P Alliluev, A A Zinchenko, et al.
International Journal of Molecular Sciences
|
May 11, 2024
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the <i>PAH</i> Gene
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, et al.
Vestnik Oftalmologii
|
February 21, 2021
[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)]
I V Zolnikova, V V Kadyshev, A V Marakhonov, et al.
Frontiers in Bioscience (Landmark Edition)
|
February 28, 2025
Copy Number Variations of Human Ribosomal Genes in Health and Disease: Role and Causes
Natalia N Veiko, Elizaveta S Ershova, Elena I Kondratyeva, et al.
Vestnik Otorinolaringologii
|
March 1, 2026
[Hearing impairment in children with cystic fibrosis]
A I Kryukov, A Yu Ivoilov, N A Mileshina, et al.
International Journal of Molecular Sciences
|
December 9, 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, et al.
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Search research articles
Search
Showing results (161-170 of 192) with videos related to
Sort By:
Page
of 20
Clinical Genetics
|
January 19, 2021
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
Andrey V Marakhonov, Magdalena Přechová, Fedor A Konovalov, et al.
Clinical Genetics
|
March 22, 2017
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
T A Vasilyeva, A A Voskresenskaya, B Käsmann-Kellner, et al.
Genes
|
November 25, 2023
Epidemiology of <i>PAX6</i> Gene Pathogenic Variants and Expected Prevalence of <i>PAX6</i>-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
Tatyana A Vasilyeva, Andrey V Marakhonov, Anna A Voskresenskaya, et al.
International Journal of Molecular Sciences
|
September 14, 2024
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Sofya A Ionova, Aysylu F Murtazina, Andrey A Marakhonov, et al.
Bulletin of Experimental Biology and Medicine
|
October 25, 2018
Peculiarities of the Formation of Antimeningococcus Immunity in Mice Immunized with Fragments of N. meningitidis IgA1 Protease
O V Kotel'nikova, A P Alliluev, A A Zinchenko, et al.
International Journal of Molecular Sciences
|
May 11, 2024
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the <i>PAH</i> Gene
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, et al.
Vestnik Oftalmologii
|
February 21, 2021
[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)]
I V Zolnikova, V V Kadyshev, A V Marakhonov, et al.
Frontiers in Bioscience (Landmark Edition)
|
February 28, 2025
Copy Number Variations of Human Ribosomal Genes in Health and Disease: Role and Causes
Natalia N Veiko, Elizaveta S Ershova, Elena I Kondratyeva, et al.
Vestnik Otorinolaringologii
|
March 1, 2026
[Hearing impairment in children with cystic fibrosis]
A I Kryukov, A Yu Ivoilov, N A Mileshina, et al.
International Journal of Molecular Sciences
|
December 9, 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, et al.
Page
of 20