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Number of items: 4.

Journal Article

Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel ORCID: 0000-0003-4554-9796, Begemann, Matthias ORCID: 0000-0002-4659-8437, Kanber, Deniz, Platzer, Konrad ORCID: 0000-0001-6127-6308, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew ORCID: 0000-0002-1077-7417, Heller, Raoul, Buiting, Karin and Eggermann, Thomas (2015). Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur. J. Hum. Genet., 23 (2). S. 180 - 189. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas ORCID: 0000-0002-0119-5896, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W. Y., Ahring, Philip K., Moller, Rikke S. ORCID: 0000-0002-9664-1448 and Gardella, Elena (2022). Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genet. Med., 24 (3). S. 681 - 694. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Hum. Mutat., 35 (10). S. 1221 - 1233. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (vol 35, pg 1221, 2014). Hum. Mutat., 35 (12). S. 1542 - 1543. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

This list was generated on Sun Mar 3 04:36:51 2024 CET.