Golgi-Cox Staining Step by Step

by Zaqout, Sami, Kaindl, Angela M.
Published 2016

Is microcephaly a so-far unrecognized feature of XYY syndrome?☆

by Nguyen-Minh, Sylvie, Bührer, Christoph, Hübner, Christoph, Kaindl, Angela M.
Published 2014

Novel Alternative Splice Variants of Mouse Cdk5rap2

by Kraemer, Nadine, Issa-Jahns, Lina, Neubert, Gerda, Ravindran, Ethiraj, Mani, Shyamala, Ninnemann, Olaf, Kaindl, Angela M.
Published 2015

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

by Picker-Minh, Sylvie, Busche, Andreas, Hartmann, Britta, Spors, Birgit, Klopocki, Eva, Hübner, Christoph, Horn, Denise, Kaindl, Angela M
Published 2014

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism☆

by Hoppe, Anne, Heinemeyer, Jan, Klopocki, Eva, Graul-Neumann, Luitgard M., Spors, Birgit, Bittigau, Petra, Kaindl, Angela M.
Published 2014

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

by Issa, Lina, Mueller, Katrin, Seufert, Katja, Kraemer, Nadine, Rosenkotter, Henning, Ninnemann, Olaf, Buob, Michael, Kaindl, Angela M, Morris-Rosendahl, Deborah J
Published 2013

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

by Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.
Published 2016

Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

by Baxter, Paul S., Bell, Karen F.S., Hasel, Philip, Kaindl, Angela M., Fricker, Michael, Thomson, Derek, Cregan, Sean P., Gillingwater, Thomas H., Hardingham, Giles E.
Published 2015

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

by Farag, Heba Gamal, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M
Published 2013

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

by Hartmann, Bianca, Wai, Timothy, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Björn, Stenzel, Werner, Gräf, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Langer, Thomas, Kaindl, Angela M
Published 2016

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

by 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
Published 2014

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

by 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
Published 2014