OpenURL Connection Search

Select item for more details and to access through your institution.

Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.
Published in:
Cardiology, 2020, v. 145, n. 11, p. 746, doi. 10.1159/000510439
By:
- Vershinina, Tatiana;
- Fomicheva, Yulia;
- Muravyev, Alexey;
- Jorholt, John;
- Kozyreva, Alexandra;
- Kiselev, Artem;
- Gordeev, Michail;
- Vasichkina, Elena;
- Segrushichev, Alexey;
- Pervunina, Tatyana;
- Sjoberg, Gunnar;
- Skyttner-Rahmani, Sanaz;
- Sejersen, Thomas;
- Kostareva, Anna
Publication type:
Article
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00608
By:
- Kiselev, Artem;
- Vaz, Raquel;
- Knyazeva, Anastasia;
- Sergushichev, Alexey;
- Dmitrieva, Renata;
- Khudiakov, Aleksandr;
- Jorholt, John;
- Smolina, Natalia;
- Sukhareva, Ksenia;
- Fomicheva, Yulia;
- Mikhaylov, Evgeny;
- Mitrofanova, Lubov;
- Predeus, Alexander;
- Sjoberg, Gunnar;
- Rudenko, Dmitriy;
- Sejersen, Thomas;
- Lindstrand, Anna;
- Kostareva, Anna
Publication type:
Article
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1161, doi. 10.1002/humu.23559
By:
- Kiselev, Artem;
- Vaz, Raquel;
- Knyazeva, Anastasia;
- Khudiakov, Aleksandr;
- Tarnovskaya, Svetlana;
- Liu, Jiao;
- Sergushichev, Alexey;
- Kazakov, Sergey;
- Frishman, Dmitrij;
- Smolina, Natalia;
- Pervunina, Tatiana;
- Jorholt, John;
- Sjoberg, Gunnar;
- Vershinina, Tatiana;
- Rudenko, Dmitriy;
- Arner, Anders;
- Sejersen, Thomas;
- Lindstrand, Anna;
- Kostareva, Anna
Publication type:
Article
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Published in:
Genes, 2020, v. 11, n. 10, p. 1201, doi. 10.3390/genes11101201
By:
- Jorholt, John;
- Formicheva, Yulia;
- Vershinina, Tatyana;
- Kiselev, Artem;
- Muravyev, Alexey;
- Demchenko, Elena;
- Fedotov, Petr;
- Zlotina, Anna;
- Rygkov, Anton;
- Vasichkina, Elena;
- Sejersen, Thomas;
- Kostareva, Anna
Publication type:
Article

Found: 4

Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.

De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.