Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Angelika Anna, Noegel"'
Autor:
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which mak
Externí odkaz:
https://doaj.org/article/86efdf4d011a4c569530b984fe472c83
Autor:
Nathalie Falk, Anneka Joachimsthaler, Kristin Kessler, Uwe Thorsten Lux, Angelika Anna Noegel, Jan Kremers, Johann Helmut Brandstätter, Andreas Gießl
Publikováno v:
Cells, Vol 8, Iss 10, p 1238 (2019)
Syne-2 (also known as Nesprin-2) is a member of a family of proteins that are found primarily in the outer nuclear membrane, as well as other subcellular compartments. Syne-2 contains a C-terminal KASH transmembrane domain and is part of a protein ne
Externí odkaz:
https://doaj.org/article/cbc97f4932f345869b0b435aae050f61
Autor:
Abubakar, Moawia, Ranad, Shaheen, Sajida, Rasool, Syeda Seema, Waseem, Nour, Ewida, Birgit, Budde, Amit, Kawalia, Susanne, Motameny, Kamal, Khan, Ambrin, Fatima, Muhammad, Jameel, Farid, Ullah, Talia, Akram, Zafar, Ali, Uzma, Abdullah, Saba, Irshad, Wolfgang, Höhne, Angelika Anna, Noegel, Mohammed, Al-Owain, Konstanze, Hörtnagel, Petra, Stöbe, Shahid Mahmood, Baig, Peter, Nürnberg, Fowzan Sami, Alkuraya, Andreas, Hahn, Muhammad Sajid, Hussain
Publikováno v:
Annals of neurology. 82(4)
Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ca015f57614c2abc32b0a40d9bb5246
https://pubmed.ncbi.nlm.nih.gov/28892560
https://pubmed.ncbi.nlm.nih.gov/28892560