Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anastasia Gazou"'
Autor:
Thorsten Schmidt, Anastasia Gazou, Angelika Rieß, Olaf Rieß, Kathrin Grundmann-Hauser, Ruth Falb, Malou Schadeck, Tilman Heinrich, Mahkameh Abeditashi, Jana Schmidt, Ulrike A. Mau-Holzmann, Kai P. Schnabel
Publikováno v:
BMC Medical Education, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any proprietary hardware anymore. Students can directly respond on their smar
Externí odkaz:
https://doaj.org/article/669baddfa2254e00b66c82e804d54c94
Autor:
Sylke Singer, Olaf Riess, Andreas Dufke, Marc Sturm, German Demidov, Pascale Mazzola, Stephan Ossowski, Anastasia Gazou
Publikováno v:
American Journal of Medical Genetics Part A. 185:3053-3056
We report on a 14-year old boy, his father, and his paternal uncle, all three carriers of a duplication of chromosomal region 11p15.3-p15.1. The aberration was transmitted by the grandmother, who is carrier of a balanced insertion 46,XX,ins(14;11)(q3
Autor:
Ulrike Schara, Jan S. Kirschke, Osama Balousha, Mona Grimmel, Katrin Rupprich, Olaf Riess, Matthias Vorgerd, Tim M. Strom, Mohammed Falna, Marc Sturm, Thomas Meitinger, Bader Alhaddad, Stephan Zierz, Tobias B. Haack, Marcus Deschauer, Beate Schlotter-Weigel, Berit Jordan, Ludger Schöls, Jakob Admard, Ilka Schneider, Martina Kreiß, Joachim Weis, Anastasia Gazou, Cornelia Kornblum, Torsten Kraya, Ghassan Balousha, Holger Hengel
Publikováno v:
Brain 144(2), 574-583 (2021). doi:10.1093/brain/awaa418
The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with collagen VI and perlecan, two proteins that are affected in hereditary neuromuscu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4cbf98596bb6fa8ac11810460b10028
https://www.ncbi.nlm.nih.gov/pubmed/33459760
https://www.ncbi.nlm.nih.gov/pubmed/33459760
Autor:
Anna Jauch, Michael Bonin, Andreas Tzschach, Karin Schäferhoff, Anastasia Gazou, Angelika Riess, Ute Grasshoff, Olaf Riess
Publikováno v:
American journal of medical genetics. Part A. (4)
Mutations or deletions of ACSL4 (FACL4, OMIM 300157) are a rare cause of non-syndromic X-linked intellectual disability. We report on a 10-year-old male patient with moderate intellectual disability, sensorineural hearing loss, facial dysmorphism, py