المؤلفون: Danishevich, Anastasiia, Chegodar, Anzhelika, Bodunova, Natalia, Konovalov, Fedor, Nefedova, Maria, Kremneva, Natalya, Kurbanov, Nizhat, Bilyalov, Airat, Nikolaev, Sergey, Khatkov, Igor, Dudina, Galina

المصدر: Life (2075-1729); May2024, Vol. 14 Issue 5, p637, 12p

مصطلحات موضوعية: MYELODYSPLASTIC syndromes, ACUTE myeloid leukemia, GENETIC mutation, HEMATOPOIETIC stem cells, CYTOPENIA

المؤلفون: Badaeva, Ekaterina D., Konovalov, Fedor A., Knüpffer, Helmut, Fricano, Agostino, Ruban, Alevtina, Kehel, Zakaria, Zakaria, Svyatoslav A., Surzhikov, Sergei A., Neumann, Kerstin, Graner, Andreas, Hammer, Karl, Filatenko, Anna, Bogaard, Amy, Jones, Glynis, Özkan, Hakan, Kilian, Benjamin

المصدر: Theoretical and applied genetics, 135(3):755-776

العلاقة: https://repository.publisso.de/resource/frl:6433170Test; https://dx.doi.org/10.1007/s00122-021-03912-0Test; https://link.springer.com/article/10.1007/s00122-021-03912-0#Sec17Test

الإتاحة: https://doi.org/10.1007/s00122-021-03912-0Test
https://repository.publisso.de/resource/frl:6433170Test

المؤلفون: Sharova, Margarita, Skoblov, Mikhail, Dadali, Elena, Demina, Nina, Shchagina, Olga, Konovalov, Fedor, Ampleeva, Maria, Sharkova, Inna, Kutsev, Sergey

المساهمون: Ministry of Science and Higher Education of the Russian Federation

المصدر: Frontiers in Neurology ; volume 13 ; ISSN 1664-2295

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.3389/fneur.2022.1008937Test

المؤلفون: Marakhonov, Andrey V., Přechová, Magdalena, Konovalov, Fedor A., Filatova, Alexandra Yu., Zamkova, Maria A., Kanivets, Ilya V., Solonichenko, Vladimir G., Semenova, Natalia A., Zinchenko, Rena A., Treisman, Richard, Skoblov, Mikhail Yu.

المساهمون: Ministry of Science and Higher Education of the Russian Federation, Russian Science Foundation, Cancer Research UK, Wellcome Trust

المصدر: Clinical Genetics ; volume 99, issue 5, page 673-683 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13926Test

المؤلفون: Badaeva, Ekaterina D., Konovalov, Fedor A., Knüpffer, Helmut, Fricano, Agostino, Ruban, Alevtina S., Kehel, Zakaria, Zoshchuk, Svyatoslav A., Surzhikov, Sergei A., Neumann, Kerstin, Graner, Andreas, Hammer, Karl, Filatenko, Anna, Bogaard, Amy, Jones, Glynis, Özkan, Hakan, Kilian, Benjamin

المساهمون: FP7 Food, Agriculture and Fisheries, Biotechnology, German Research Foundation, Federal Office for Agriculture and Food of Germany, Российский Фонд Фундаментальных Исследований

المصدر: Theoretical and Applied Genetics ; volume 135, issue 3, page 755-776 ; ISSN 0040-5752 1432-2242

مصطلحات موضوعية: Genetics, Agronomy and Crop Science, General Medicine, Biotechnology

الإتاحة: https://doi.org/10.1007/s00122-021-03912-0Test

المؤلفون: Badaeva, Ekaterina D., Konovalov, Fedor A., Knüpffer, Helmut, Fricano, Agostino, Ruban, Alevtina S., Kehel, Zakaria, Zoshchuk, Svyatoslav A., Surzhikov, Sergei A., Neumann, Kerstin, Graner, Andreas, Hammer, Karl, Filatenko, Anna, Bogaard, Amy, Jones, Glynis, Özkan, Hakan, Kilian, Benjamin

المصدر: Theoretical and Applied Genetics ; volume 134, issue 10, page 3493-3493 ; ISSN 0040-5752 1432-2242

مصطلحات موضوعية: Genetics, Agronomy and Crop Science, General Medicine, Biotechnology

الإتاحة: https://doi.org/10.1007/s00122-021-03931-xTest

المؤلفون: Bardakov, Sergey, N, Deev, Roman, V, Magomedova, Raisat, M, Umakhanova, Zoya, R, Allamand, Valérie, Gartioux, Corine, Zulfugarov, Kamil, Z, Akhmedova, Patimat, G, Tsargush, Vadim, A, Titova, Angelina, A, Mavlikeev, Mikhail, O, Zorin, Vadim, L, Chernets, Ekaterina, N, Dalgatov, Gimat, D, Konovalov, Fedor, A, Isaev, Artur, A

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Kazan Federal University (KFU)

المصدر: ISSN: 2214-3599.

مصطلحات موضوعية: COL6A1, Ullrich congenital muscular dystrophy, collagenopathy, contractures, fibroblasts, leaky splicing, myosclerotic phenotype of Bethlem myopathy, type VI collagen, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33337382; hal-03094479; https://hal.sorbonne-universite.fr/hal-03094479Test; https://hal.sorbonne-universite.fr/hal-03094479/documentTest; https://hal.sorbonne-universite.fr/hal-03094479/file/jnd-prepress_jnd--1--1-jnd200476_jnd--1-jnd200476.pdfTest; PUBMED: 33337382

الإتاحة: https://doi.org/10.3233/JND-200476Test
https://hal.sorbonne-universite.fr/hal-03094479Test
https://hal.sorbonne-universite.fr/hal-03094479/documentTest
https://hal.sorbonne-universite.fr/hal-03094479/file/jnd-prepress_jnd--1--1-jnd200476_jnd--1-jnd200476.pdfTest

المؤلفون: Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S., Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M., Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O’Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza, Silver, David L.

المصدر: European Journal of Human Genetics ; volume 28, issue 11, page 1509-1519 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-020-0669-xTest
http://www.nature.com/articles/s41431-020-0669-x.pdfTest
http://www.nature.com/articles/s41431-020-0669-xTest

المؤلفون: Marakhonov, Andrey V., Voskresenskaya, Anna A., Ballesta, Maria Jose, Konovalov, Fedor A., Vasilyeva, Tatyana A., Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A., Kadyshev, Vitaly V., López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A., Corton, Marta

المساهمون: Российский Фонд Фундаментальных Исследований, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Comunidad de Madrid, Fundación Mutua Madrileña, Fundación Ramón Areces

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-020-01484-8Test

المؤلفون: Khoreva, Anna, Pomerantseva, Ekaterina, Belova, Natalia, Povolotskaya, Inna, Konovalov, Fedor, Kaimonov, Vladimir, Gavrina, Alena, Zimin, Sergey, Pershin, Dmitrii, Davydova, Nataliia, Burlakov, Vasilii, Viktorova, Ekaterina, Roppelt, Anna, Kalinina, Ekaterina, Novichkova, Galina, Shcherbina, Anna

المصدر: Frontiers in Pediatrics ; volume 8 ; ISSN 2296-2360

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.3389/fped.2020.00577Test