Zobrazeno 1 - 10
of 2 317
pro vyhledávání: '"SZEINBERG, A"'
Autor:
Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K., Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori, Pras, Elon, Reznik-Wolf, Haike, Lancet, Doron, Goldstein, David B., Anikster, Yair, Shalev, Stavit A., Elpeleg, Orly, Ben Zeev, Bruria
Publikováno v:
In European Journal of Paediatric Neurology January 2016 20(1):69-79
Autor:
Efrati, Ori, Bylin, Irena, Segal, Eran, Vilozni, Daphna, Modan-Moses, Dalit, Vardi, Amir, Szeinberg, Amir, Paret, Gideon
Publikováno v:
In Heart & Lung - The Journal of Acute and Critical Care 2010 39(2):153-159
Publikováno v:
In Respiratory Medicine 2009 103(10):1456-1460
Autor:
הוצלר, ישעיהו, חכם, ענת, ברגמן, אורי, שיינברג, אמיר, Hutzler, Y., Chacham, A., Bergman, U., Szeinberg, A.
Publikováno v:
Movement: Journal of Physical Education & Sport Sciences / בתנועה: כתב-עת למדעי החינוך הגופני והספורט, 1996 Nov 01. ג(4), 472-484.
Externí odkaz:
https://www.jstor.org/stable/23633398
Autor:
Henry Houlden, David A. Sweetser, Hesham Aldhalaan, Barry J. Byrne, Bruria Ben-Zeev, Gabriela M. Repetto, Bernt Popp, Yasemin Dincer, Karima Maher, Reza Maroofian, Omar Ismayl, Fowzan S. Alkuraya, Susanna Schubert, Wen-Hann Tan, Jens Meiler, Usha Kini, Parul Jayakar, Fatima Khan, Darius Ebrahimi-Fakhari, Stephanie Efthymiou, Gehad ElGhazali, Mais Hashem, Vijayalakshmi Salem Ramakumaran, Volker Mall, Robert J. Graham, Bat El Bar-Aluma, Maria Cecilia Poli, Rami Abou Jamra, Barbara Brechmann, Asma E. Al Nuaimi, Gali Heimer, Sonja Neuser, Amir Szeinberg, Ines Brösse, Christian Behrends, Angelika Seitz, Mandy Krumbiegel, Jennifer E. Posey, Amal Al Tenaiji, Lauren O’Grady, Michael Zech, Siddharth Srivastava, James R. Lupski, Basil T. Darras, Isabella Herman, Alistair T. Pagnamenta, Juliane Winkelmann, Shahnaz Ibrahim, Yael Haberman, Tatiana Muñoz
PURPOSEBi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7debe78904c5d1bb78a6c6b3d6d0964
https://mediatum.ub.tum.de/doc/1625236/document.pdf
https://mediatum.ub.tum.de/doc/1625236/document.pdf
Akademický článek
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Autor:
Vilozni, Daphna, Bentur, Lea, Efrati, Ori, Barak, Asher, Szeinberg, Amir, Shoseyov, David, Yahav, Yaacov, Augarten, Arie
Publikováno v:
In Chest August 2007 132(2):497-503
Autor:
Vilozni, Daphna, Bentur, Lea, Efrati, Ori, Minuskin, Tal, Barak, Asher, Szeinberg, Amir, Blau, Hannah, Picard, Elie, Kerem, Eitan, Yahav, Yaacov, Augarten, Arie
Publikováno v:
In Chest February 2007 131(2):356-361
Autor:
Nascimento, Rafaela Andrade do1, Campos, Tania Fernandes2, Melo, Janiara Borges da Costa1, de Oliveira Borja, Raíssa3, de Freitas, Diana Amélia4, de Mendonça, Karla Morganna Pereira Pinto5 kmorganna@ufrnet.br
Publikováno v:
Revista Brasileira de Crescimento e Desenvolvimento Humano. ago2012, Vol. 22 Issue 2, Special section p1-7. 7p.
Autor:
Elon Pras, Danit Oz-Levi, Shimon Edvardson, E.K. Ruzzo, Yair Anikster, Gali Heimer, Andreea Nissenkorn, Stavit A. Shalev, Channa Maayan, Orly Elpeleg, Amir Szeinberg, Eran Eyal, Ori Efrati, Haike Reznik-Wolf, Meir Mai-Zahav, David Goldstein, Doron Lancet, Bruria Ben Zeev
Publikováno v:
European Journal of Paediatric Neurology. 20:69-79
Background TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic para
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802ec197f6d905538913dc4869d139f6
https://doi.org/10.1016/j.ejpn.2015.10.003
https://doi.org/10.1016/j.ejpn.2015.10.003