Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Margarita, Stefanova"'
Publikováno v:
Avramtcheva, Margarita Stefanova. The International Criminal Court’s prosecutorial review mechanism: In rude health or crippled?. Master thesis, University of Oslo, 2020
Externí odkaz:
http://hdl.handle.net/10852/81254
https://www.duo.uio.no/bitstream/handle/10852/81254/1/M-Aramtchvea--Master-Thesis--15-May-2020.pdf
https://www.duo.uio.no/bitstream/handle/10852/81254/1/M-Aramtchvea--Master-Thesis--15-May-2020.pdf
Autor:
Milen Zamfirov, Margarita Stefanova-Bakracheva, Ekaterina Sofronieva, Milena Blajieva, Tsetska Kolarova
Publikováno v:
Education and Technologies Journal. 11:91-98
The present article outlines the results from several studies, conducted prior to and after the emergency related to COVID-19 in Bulgaria. They all aim at describing how different groups of volunteers – general population, teachers, school and univ
Publikováno v:
Molecular Syndromology. 10:281-285
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Margarita Stefanova, Alexander Pepler, Saskia Biskup, Anna Sandestig, Anja Holz, Per Odelberg-Johnsson, Ingela Danielsson, Karolina Engström
Publikováno v:
Molecular Syndromology. 10:313-319
There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have b
Autor:
Saskia Biskup, Anna Gréen, Alexander Pepler, Katarina Ellnebo, Johan Wahlström, Hartmut Vogt, Jon Jonasson, Anna Sandestig, Margarita Stefanova
Publikováno v:
Molecular Syndromology. 9:259-265
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Publikováno v:
Mol Syndromol
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Anna, Sandestig, Anna, Green, Jon, Jonasson, Hartmut, Vogt, Johan, Wahlström, Alexander, Pepler, Katarina, Ellnebo, Saskia, Biskup, Margarita, Stefanova
Publikováno v:
Molecular syndromology. 9(5)
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Autor:
Bertrand Isidor, Christine Francannet, D. Li, Samuel W. Baker, Gaëlle Vieville, Martine Doco-Fenzy, David Geneviève, I. Giurgea, Anna Gréen, Emily Fassi, Caroline Nava, Roseline Caumes, C. Fournier, Alexandra Afenjar, Françoise Devillard, Yuri A. Zarate, Damien Sanlaville, Michael Field, Elisabetta Lapi, Sandra Whalen, Emma Bedoukian, Alice Goldenberg, S. Steinwall Larsen, Jamal Ghoumid, Marjolaine Willems, M. Wenzel, Isabelle Marey, Sylvie Picker-Minh, Thomas Smol, Anne-Marie Guerrot, Dominique Bonneau, Gaetan Lesca, Delphine Héron, Elizabeth J. Bhoj, Véronique Satre, Sylvie Manouvrier-Hanu, Christine Coubes, Alain Verloes, Margarita Stefanova, Gaël Nicolas, Amélie Piton, Odile Boute-Benejean, Laurence Faivre, Caroline Thuillier, Bénédicte Gérard, Nicolas Chatron, Florence Petit, Beth Keena, Elise Boudry-Labis, C. Colson, Sonia Bouquillon, Avni Santani, Boris Keren, Lisa Ewans, Tony Roscioli, N. Le Meur, Paul Kuentz, Bryan L. Krock, Catherine Roche-Lestienne, Anne Dieux-Coeslier, Alban Ziegler, Pascale Saugier-Veber, Cyril Mignot, Vera M. Kalscheuer, Addie I. Nesbitt, Charles Coutton
Publikováno v:
neurogenetics
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
IF 3.269; International audience; Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26742ebefa31c9d6ec26971054a8e524
https://hal.science/hal-02393664
https://hal.science/hal-02393664
Publikováno v:
American Journal of Medical Genetics Part A. 167:204-210
Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual di
Autor:
Bertrand Isidor, Anna Erlandsson, Lena Samuelsson, Shelagh Joss, Shino Shimada, Cédric Le Caignec, Mohnish Suri, Margarita Stefanova, Noriko Sangu, Anna Wilsdon, Keiko Shimojima, Toshiyuki Yamamoto
Publikováno v:
Journal of Human Genetics. 59:300-306
The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7 Mb in size. In co