Novel Alternative Splice Variants of Mouse Cdk5rap2

Por Kraemer, Nadine, Issa-Jahns, Lina, Neubert, Gerda, Ravindran, Ethiraj, Mani, Shyamala, Ninnemann, Olaf, Kaindl, Angela M.
Publicado no PLoS One (2015)

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

Por von Bernuth, Horst, Ravindran, Ethiraj, Du, Hang, Fröhler, Sebastian, Strehl, Karoline, Krämer, Nadine, Issa-Jahns, Lina, Amulic, Borko, Ninnemann, Olaf, Xiao, Mei-Sheng, Eirich, Katharina, Kölsch, Uwe, Hauptmann, Kathrin, John, Rainer, Schindler, Detlev, Wahn, Volker, Chen, Wei, Kaindl, Angela M
Publicado no Orphanet J Rare Dis (2014)

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Por Hu, Hao, Matter, Michelle L, Issa-Jahns, Lina, Jijiwa, Mayumi, Kraemer, Nadine, Musante, Luciana, de la Vega, Michelle, Ninnemann, Olaf, Schindler, Detlev, Damatova, Natalia, Eirich, Katharina, Sifringer, Marco, Schrötter, Sandra, Eickholt, Britta J, van den Heuvel, Lambert, Casamina, Chanel, Stoltenburg-Didinger, Gisela, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M
Publicado no Ann Clin Transl Neurol (2014)