Zobrazeno 1 - 10
of 722
pro vyhledávání: '"Horn Denise"'
Autor:
Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
Publikováno v:
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Autor:
Gottschalk, Annika, Sczakiel, Henrike L., Hülsemann, Wiebke, Schwartzmann, Sarina, Abad-Perez, Angela T., Grünhagen, Johannes, Ott, Claus-Eric, Spielmann, Malte, Horn, Denise, Mundlos, Stefan, Jamsheer, Aleksander, Mensah, Martin A.
Publikováno v:
In Genetics in Medicine November 2023 25(11)
Autor:
Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane
Publikováno v:
BMC Medical Genetics, Vol 12, Iss 1, p 106 (2011)
Abstract Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schi
Externí odkaz:
https://doaj.org/article/e80b3fa99fa04807993bdc10c3943cf3
Autor:
Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan
Publikováno v:
BMC Medical Genetics, Vol 11, Iss 1, p 110 (2010)
Abstract Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bone
Externí odkaz:
https://doaj.org/article/a20acb3ec7074ab7b1383886ac55a6b5
Autor:
Caron, Véronique, Chassaing, Nicolas, Ragge, Nicola, Boschann, Felix, Ngu, Angelina My-Hoa, Meloche, Elisabeth, Chorfi, Sarah, Lakhani, Saquib A., Ji, Weizhen, Steiner, Laurie, Marcadier, Julien, Jansen, Philip R., van de Pol, Laura A., van Hagen, Johanna M., Russi, Alvaro Serrano, Le Guyader, Gwenaël, Nordenskjöld, Magnus, Nordgren, Ann, Anderlid, Britt-Marie, Plaisancié, Julie, Stoltenburg, Corinna, Horn, Denise, Drenckhahn, Anne, Hamdan, Fadi F., Lefebvre, Mathilde, Attie-Bitach, Tania, Forey, Peggy, Smirnov, Vasily, Ernould, Françoise, Jacquemont, Marie-Line, Grotto, Sarah, Alcantud, Alberto, Coret, Alicia, Ferrer-Avargues, Rosario, Srivastava, Siddharth, Vincent-Delorme, Catherine, Romoser, Shelby, Safina, Nicole, Saade, Dimah, Lupski, James R., Calame, Daniel G., Geneviève, David, Chatron, Nicolas, Schluth-Bolard, Caroline, Myers, Kenneth A., Dobyns, William B., Calvas, Patrick, Salmon, Caroline, Holt, Richard, Elmslie, Frances, Allaire, Marc, Prigozhin, Daniil M., Tremblay, André, Michaud, Jacques L.
Publikováno v:
In Genetics in Medicine August 2023 25(8)
Autor:
de los Santos, Miguel Rodríguez, Rivalan, Marion, David, Friederike S., Stumpf, Alexander, Pitsch, Julika, Tsortouktzidis, Despina, Velasquez, Laura Moreno, Voigt, Anne, Schilling, Karl, Mattei, Daniele, Long, Melissa, Vogt, Guido, Knaus, Alexej, Fischer-Zirnsak, Björn, Wittler, Lars, Timmermann, Bernd, Robinson, Peter N., Horn, Denise, Mundlos, Stefan, Kornak, Uwe, Becker, Albert J., Schmitz, Dietmar, Winter, York, Krawitz, Peter M.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2021 Jan 01. 118(2), 1-11.
Externí odkaz:
https://www.jstor.org/stable/27005959
Autor:
Schwartzmann, Sarina, Zhao, Max, Sczakiel, Henrike Lisa, Hildebrand, Gabriele, Ehmke, Nadja, Horn, Denise, Mensah, Martin A., Boschann, Felix
Publikováno v:
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-7, 7p
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