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1دورية أكاديمية
المؤلفون: Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexey Sergushichev, Renata Dmitrieva, Aleksandr Khudiakov, John Jorholt, Natalia Smolina, Ksenia Sukhareva, Yulia Fomicheva, Evgeny Mikhaylov, Lubov Mitrofanova, Alexander Predeus, Gunnar Sjoberg, Dmitriy Rudenko, Thomas Sejersen, Anna Lindstrand, Anna Kostareva
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: myoferlin, haploinsufficiency, cardiomyopathy, muscular dystrophy, zebrafish, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: John Jorholt, Yulia Formicheva, Tatyana Vershinina, Artem Kiselev, Alexey Muravyev, Elena Demchenko, Petr Fedotov, Anna Zlotina, Anton Rygkov, Elena Vasichkina, Thomas Sejersen, Anna Kostareva
المصدر: Genes, Vol 11, Iss 10, p 1201 (2020)
مصطلحات موضوعية: hypertrophic cardiomyopathy, alpha kinase 3, ALPK3, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Tatiana Vershinina, Sanaz Skyttner-Rahmani, Anna Kostareva, Yulia Fomicheva, Michail Gordeev, Elena Vasichkina, Alexey Segrushichev, Thomas Sejersen, T. M. Pervunina, Artem Kiselev, Alexey Muravyev, Alexandra Kozyreva, John Jorholt, Gunnar Sjöberg
المصدر: Cardiology. 145(11)
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Adolescent, Heart Ventricles, Cardiomyopathy, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Pharmacology (medical), Child, Genotyping, business.industry, Genetic heterogeneity, Barth syndrome, MYPN, medicine.disease, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, MYH7, MYH6, Cardiology and Cardiovascular Medicine, business, Cardiomyopathies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264afa73e0dd18cc8ca5921616d9fc5d
https://pubmed.ncbi.nlm.nih.gov/33049752 -
4
المؤلفون: Artem, Kiselev, Raquel, Vaz, Anastasia, Knyazeva, Alexey, Sergushichev, Renata, Dmitrieva, Aleksandr, Khudiakov, John, Jorholt, Natalia, Smolina, Ksenia, Sukhareva, Yulia, Fomicheva, Evgeny, Mikhaylov, Lubov, Mitrofanova, Alexander, Predeus, Gunnar, Sjoberg, Dmitriy, Rudenko, Thomas, Sejersen, Anna, Lindstrand, Anna, Kostareva
المصدر: Frontiers in Genetics
مصطلحات موضوعية: muscular dystrophy, myoferlin, Genetics, zebrafish, cardiomyopathy, Original Research, haploinsufficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::543e51c418e5a206cc6eaf2b935680c0
https://pubmed.ncbi.nlm.nih.gov/31297131 -
5
المؤلفون: Tatiana Vershinina, Tatiana Pervunina, Artem Kiselev, Sergey Kazakov, S. I. Tarnovskaya, Natalia Smolina, Dmitriy Rudenko, Dmitrij Frishman, Thomas Sejersen, Aleksandr Khudiakov, Jiao Liu, Alexey Sergushichev, Raquel Vaz, Anastasia Knyazeva, Anders Arner, Gunnar Sjöberg, John Jorholt, Anna Lindstrand, Anna Kostareva
المصدر: Human mutation. 39(9)
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pathology, medicine.medical_specialty, Adolescent, Filamins, DNA Mutational Analysis, Cardiomyopathy, Biology, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Genetics, medicine, Missense mutation, Humans, FLNC, Myopathy, Genetics (clinical), Arthrogryposis, Cardiomyopathy, Restrictive, Restrictive cardiomyopathy, Infant, Newborn, Infant, medicine.disease, Congenital myopathy, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, Mutation, Female, medicine.symptom, 030217 neurology & neurosurgery