Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | Date | No Grouping
Number of items: 4.

Journal Article

Dikow, Nicola, Maas, Bianca, Gaspar, Harald, Kreiss-Nachtsheim, Martina, Engels, Hartmut, Kuechler, Alma, Garbes, Lutz, Netzer, Christian, Neuhann, Teresa M., Koehler, Udo, Casteels, Kristina, Devriendt, Koen, Janssen, Johannes W. G., Jauch, Anna, Hinderhofer, Katrin and Moog, Ute (2013). The Phenotypic Spectrum of Duplication 5q35.2-q35.3 Encompassing NSD1: Is It Really a Reversed Sotos Syndrome? Am. J. Med. Genet. A, 161 (9). S. 2158 - 2167. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Erger, Florian ORCID: 0000-0002-2768-1702, Burau, Karin, Elsaesser, Michael, Zimmermann, Katharina, Moog, Ute and Netzer, Christian (2018). Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses. Eur. J. Hum. Genet., 26 (9). S. 1392 - 1396. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Horn, Denise, Kapeller, Johannes, Rivera-Brugues, Nria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P., Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R., Franke, Andre ORCID: 0000-0003-1530-5811, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva ORCID: 0000-0003-1438-2081, Rappold, Gudrun A. and Strom, Tim M. (2010). Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits. Hum. Mutat., 31 (11). S. E1851 - 10. MALDEN: WILEY-BLACKWELL. ISSN 1059-7794

Wolff, Markus ORCID: 0000-0001-5640-0888, Johannesen, Katrine M., Hedrich, Ulrike B. S., Masnada, Silvia ORCID: 0000-0003-3850-8849, Rubboli, Guido ORCID: 0000-0002-5309-2514, Gardella, Elena ORCID: 0000-0002-7138-6022, Lesca, Gaetan ORCID: 0000-0001-7691-9492, Ville, Dorothee, Milh, Mathieu, Villard, Laurent ORCID: 0000-0001-6657-5008, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline ORCID: 0000-0003-1272-0518, Schwarz, Niklas, Gerard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stephane, Miranda, Maria J., Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P., Mancini, Grazia, Biskup, Saskia, Hoertnagel, Konstanze, Doecker, Miriam, Bast, Thomas, Loddenkemper, Tobias ORCID: 0000-0003-2074-0674, Wong-Kisiel, Lily, Baumeister, Friedrich M., Fazeli, Walid, Striano, Pasquale ORCID: 0000-0002-6065-1476, Dilena, Robertino ORCID: 0000-0003-1064-1840, Fontana, Elena ORCID: 0000-0002-4553-2452, Zara, Federico ORCID: 0000-0001-9744-5222, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G., Arndt, Daniel H., Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brueckner, Reinhard, Pietz, Joachim, Golla, Guenther, Jillella, Dinesh ORCID: 0000-0002-5399-0170, Linnet, Karen M., Charles, Perrine, Moog, Ute, Oiglane-Shlik, Eve, Mantovani, John F., Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G. Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L., Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lemke, Johannes R., Kraegeloh-Mann, Ingeborg, Helbig, Ingo ORCID: 0000-0001-8486-0558, Kluger, Gerhard, Lerche, Holger and Moller, Rikke S. (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140. S. 1316 - 1337. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

This list was generated on Fri Dec 3 02:56:41 2021 CET.