Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
Bramswig, Nuria C., Caluseriu, O., Lüdecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.
Published in Human genetics (01.03.2017)
Published in Human genetics (01.03.2017)
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig, Nuria C., Lüdecke, H.-J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., Eichler, E. E., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilsson, D., Nordgren, A., Pfundt, R., Spruijt, L., Surowy, H. M., de Vries, B. B. A., Wieland, T., Engels, H., Strom, T. M., Kleefstra, T., Wieczorek, D.
Published in Human genetics (01.02.2017)
Published in Human genetics (01.02.2017)
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Journal Article
Large monochromator systems at PETRA III
Horbach, J., Degenhardt, M., Hahn, U., Heuer, J., Peters, H.B., Schulte-Schrepping, H., Donat, A., Lüdecke, H.
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01.09.2011)
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01.09.2011)
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Journal Article
High temperature wear testing of a Ni-based superalloy pin on a cast iron disc
Rynio, C., Hattendorf, H., Klöwer, J., Lüdecke, H.-G., Eggeler, G.
Published in Materialwissenschaft und Werkstofftechnik (01.10.2013)
Published in Materialwissenschaft und Werkstofftechnik (01.10.2013)
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PETRA III Special Optics
Horbach, J, Degenhardt, M, Donat, A, Hahn, U, Heuer, J, Luedecke, H, Peters, H B, Schulte-Schrepping, H
Published in Journal of physics. Conference series (01.01.2013)
Published in Journal of physics. Conference series (01.01.2013)
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M., Wieczorek, D.
Published in Human genetics (01.08.2013)
Published in Human genetics (01.08.2013)
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Journal Article
‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
Bramswig, Nuria C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T., Lüdecke, H.-J.
Published in Human genetics (01.10.2015)
Published in Human genetics (01.10.2015)
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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
Glöckner, Gernot, Momeni, Parastoo, Albrecht, Beate, Lüdecke, Hermann-Josef, Zabel, Bernhard, Gillessen-Kaesbach, Gabriele, Schmidt, Olaf, Meinecke, Peter, Rosenthal, André, Hennekam, Raoul, von Holtum, Diane, Horsthemke, Bernhard
Published in Nature genetics (01.01.2000)
Published in Nature genetics (01.01.2000)
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Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth
Kantaputra, P., Miletich, I., Lüdecke, H.-J., Suzuki, E.Y., Praphanphoj, V., Shivdasani, R., Wuelling, M., Vortkamp, A., Napierala, D., Sharpe, P.T.
Published in Journal of dental research (01.11.2008)
Published in Journal of dental research (01.11.2008)
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Journal Article
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature
Kuechler, A., Hentschel, J., Kurth, I., Stephan, B., Prott, E.-C., Schweiger, B., Schuster, A., Wieczorek, D., Lüdecke, H.-J.
Published in Molecular syndromology (01.11.2012)
Published in Molecular syndromology (01.11.2012)
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Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1
Kaiser, Frank J., Tavassoli, Kamiab, Van den Bemd, Gert-Jan, Chang, Glenn T.G., Horsthemke, Bernhard, Möröy, Tarik, Lüdecke, Hermann-Josef
Published in Human molecular genetics (01.06.2003)
Published in Human molecular genetics (01.06.2003)
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Journal Article
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
Beygo, J., Buiting, K., Seland, S., Lüdecke, H.-J., Hehr, U., Lich, C., Prager, B., Lohmann, D.R., Wieczorek, D.
Published in Molecular syndromology (2012)
Published in Molecular syndromology (2012)
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Journal Article
New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22
Fiedler, Wolfgang, Claussen, Uwe, Lüdecke, Hermann-Josef, Senger, Gabriele, Horsthemke, Bernhard, Geurts Van Kessel, Ad, Goertzen, Winfried, Fahsold, Raimund
Published in Genomics (San Diego, Calif.) (01.07.1991)
Published in Genomics (San Diego, Calif.) (01.07.1991)
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A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene
Sendi-Naderi, A, Lüdecke, H-J, Unger, S, Kern, JS, Wolff, G, Bruckner-Tuderman, L, Nashan, D
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2010)
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2010)
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Journal Article
Expression of Trps1 during mouse embryonic development
Kunath, Melanie, Lüdecke, Hermann-Josef, Vortkamp, Andrea
Published in Gene Expression Patterns (01.11.2002)
Published in Gene Expression Patterns (01.11.2002)
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