Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Autor: Cali, Elisa, Quirin, Tania, Rocca, Clarissa, Efthymiou, Stephanie, Riva, Antonella, Marafi, Dana, Zaki, Maha S., Suri, Mohnish, Dominguez, Roberto, Elbendary, Hasnaa M., Alavi, Shahryar, Abdel-Hamid, Mohamed S., Morsy, Heba, Mau-Them, Frederic Tran, Nizon, Mathilde, Tesner, Pavel, Ryba, Lukáš, Zafar, Faisal, Rana, Nuzhat, Saadi, Nebal W., Firoozfar, Zahra, Gencpinar, Pinar, Unay, Bulent, Ustun, Canan, Bruel, Ange-Line, Coubes, Christine, Stefanich, Jennifer, Sezer, Ozlem, Agolini, Emanuele, Novelli, Antonio, Vasco, Gessica, Lettori, Donatella, Milh, Mathieu, Villard, Laurent, Zeidler, Shimriet, Opperman, Henry, Strehlow, Vincent, Issa, Mahmoud Y., El Khassab, Hebatallah, Chand, Prem, Ibrahim, Shahnaz, Nejad-Rashidi, Ali, Miryounesi, Mohammad, Larki, Pegah, Morrison, Jennifer, Cristian, Ingrid, Thiffault, Isabelle, Bertsch, Nicole L., Noh, Grace J., Pappas, John, Moran, Ellen, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Hosseini, Susan, Abbaszadegan, Mohammad Reza, Caumes, Roseline, Vissers, Lisenka E.L.M., Neshatdoust, Maedeh, Montazer, Mostafa Zohour, El Fahime, Elmostafa, Canavati, Christin, Kamal, Lara, Kanaan, Moien, Askander, Omar, Voinova, Victoria, Levchenko, Olga, Haider, Shahzhad, Halbach, Sara S., Maia, Elias Rayana, Mansoor, Salehi, Vivek, Jain, Tawde, Sanjukta, Challa, Viveka Santhosh R., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Victor, Lucas Alves, Pinero-Banos, Benito, Hague, Jennifer, Ei-Awady, Heba Ahmed, Maria de Miranda Henriques-Souza, Adelia, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Idkaidak, Sara, Alqarajeh, Firas, Atawneh, Osama, Mor-Shaked, Hagar, Harel, Tamar, Zifarelli, Giovanni, Bauer, Peter, Kok, Fernando, Kitajima, Joao Paulo, Monteiro, Fabiola, Josahkian, Juliana, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothe, Murphy, David, Neul, Jeffrey L., Mullegama, Sureni V., Begtrup, Amber, Herman, Isabella, Mitani, Tadahiro, Posey, Jennifer E., Tay, Chee Geap, Javed, Iram, Carr, Lucinda, Kanani, Farah, Beecroft, Fiona, Hane, Lee, Abdelkreem, Elsayed, Macek, Milan, Bispo, Luciana, Elmaksoud, Marwa Abd, Hashemi-Gorji, Farzad, Pehlivan, Davut, Amor, David J., Jamra, Rami Abou, Chung, Wendy K., Ghayoor, Eshan Karimiani, Campeau, Philippe, Alkuraya, Fowzan S., Pagnamenta, Alistair T., Gleeson, Joseph, Lupski, James R., Striano, Pasquale, Moreno-De-Luca, Andres, Lafontaine, Denis L.J., Houlden, Henry, Maroofian, Reza

Publikováno v: In Genetics in Medicine September 2024

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Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Autor: Levchenko, Olga¹ (AUTHOR) genclinic@yandex.ru, Dadali, Elena¹ (AUTHOR) bessonovala@yandex.ru, Bessonova, Ludmila¹ (AUTHOR) demina@med-gen.ru, Demina, Nina¹ (AUTHOR) rudenskaya@med-gen.ru, Rudenskaya, Galina¹ (AUTHOR) matyushchenko@med-gen.ru, Matyushchenko, Galina¹ (AUTHOR) markova@med-gen.ru, Markova, Tatiana¹ (AUTHOR) anisimova-inga@med-gen.ru, Anisimova, Inga¹ (AUTHOR) semenova@med-gen.ru, Semenova, Natalia¹ (AUTHOR) schagina@dnalab.ru, Shchagina, Olga¹ (AUTHOR) ryzhkova@dnalab.ru, Ryzhkova, Oxana¹ (AUTHOR) renazinchenko@mail.ru, Zinchenko, Rena¹ (AUTHOR) vgalka06@rambler.ru, Galkina, Varvara¹ (AUTHOR) nagieva.sabinka@gmail.com, Voinova, Victoria^2,3 (AUTHOR) vivoinova@yandex.ru, Nagieva, Sabina¹ (AUTHOR) alexandervlavrov@gmail.com, Lavrov, Alexander¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Jul2022, Vol. 23 Issue 14, p7764-7764. 17p.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Autor: Borovikov, Artem, Galeeva, Nailya, Marakhonov, Andrey, Murtazina, Aysylu, Kadnikova, Varvara, Davydenko, Kseniya, Orlova, Anna, Sparber, Peter, Markova, Tatiana, Orlova, Maria, Osipova, Darya, Nagornova, Tatyana, Semenova, Natalia, Levchenko, Olga, Filatova, Alexandra, Sharova, Margarita, Vasiluev, Peter, Kanivets, Ilya, Pyankov, Denis, Sharkov, Artem

Publikováno v: Human Mutation; 2/12/2024, Vol. 2024, p1-13, 13p

Organization of Teaching New Languages in Real Schools (Based on Materials of Pre-Soviet Period Editions)

Autor: Levchenko Olga Yu.

Publikováno v: Scholarly Notes of Transbaikal State University. 15:70-78

The study of the history of domestic foreign language education continues to remain relevant, since some aspects of this problem have not received their comprehensive description. In this regard, the activity of real schools is of undoubted interest,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5e15c23cc596b0bbf526e403242b5c2
https://doi.org/10.21209/2658-7114-2020-15-5-70-78