Correspondence (letter to the editor): Risk Group includes infants

Por Hartmann, Hans, Das, Anibh Martin, Lücke, Thomas
Publicado em 2009

Mitochondrial DNA Depletion and Respiratory Chain Activity in Primary Human Subcutaneous Adipocytes Treated with Nucleoside Analogue Reverse Transcriptase Inhibitors

Por Stankov, Metodi V., Lücke, Thomas, Das, Anibh M., Schmidt, Reinhold E., Behrens, Georg M. N.
Publicado em 2010

L-Arginine/NO Pathway Is Altered in Children with Haemolytic-Uraemic Syndrome (HUS)

Por Kanzelmeyer, Nele Kirsten, Pape, Lars, Chobanyan-Jürgens, Kristine, Tsikas, Dimitrios, Hartmann, Hans, Fuchs, Anne-Jule, Vaske, Bernhard, Das, Anibh Martin, Haubitz, Marion, Jordan, Jens, Lücke, Thomas
Publicado em 2014

Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial

Por Grigull, Lorenz, Lechner, Werner, Petri, Susanne, Kollewe, Katja, Dengler, Reinhard, Mehmecke, Sandra, Schumacher, Ulrike, Lücke, Thomas, Schneider-Gold, Christiane, Köhler, Cornelia, Güttsches, Anne-Katrin, Kortum, Xiaowei, Klawonn, Frank
Publicado no BMC Med Inform Decis Mak (2016)

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Por Thiels, Charlotte, Fleger, Martin, Huemer, Martina, Rodenburg, Richard J., Vaz, Frederic M., Houtkooper, Riekelt H., Haack, Tobias B., Prokisch, Holger, Feichtinger, René G., Lücke, Thomas, Mayr, Johannes A., Wortmann, Saskia B.
Publicado no JIMD Rep (2016)

Schimke immuno‐osseous dysplasia: a clinicopathological correlation

Por Clewing, J Marietta, Antalfy, Barbara C, Lücke, Thomas, Najafian, Behzad, Marwedel, Katja M, Hori, Akira, Powel, Ralph M, Do, A F Safo, Najera, Lydia, SantaCruz, Karen, Hicks, M John, Armstrong, Dawna L
Publicado em 2007

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Por Baradaran-Heravi, Alireza, Cho, Kyoung Sang, Tolhuis, Bas, Sanyal, Mrinmoy, Morozova, Olena, Morimoto, Marie, Elizondo, Leah I., Bridgewater, Darren, Lubieniecka, Joanna, Beirnes, Kimberly, Myung, Clara, Leung, Danny, Fam, Hok Khim, Choi, Kunho, Huang, Yan, Dionis, Kira Y., Zonana, Jonathan, Keller, Kory, Stenzel, Peter, Mayfield, Christy, Lücke, Thomas, Bokenkamp, Arend, Marra, Marco A., van Lohuizen, Maarten, Lewis, David B., Shaw, Chad, Boerkoel, Cornelius F.
Publicado em 2012

Schimke immunoosseous dysplasia: defining skeletal features

Por Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
Publicado em 2009

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Por Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.
Publicado no Am J Hum Genet (2015)

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Publicado em 2012-09-01

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Publicado em 2012