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Journal Article
Bey, Katharina, Wolfsgruber, Steffen, Karaca, Ilker ORCID: 0000-0002-2139-0015, Wagner, Holger, Lardenoije, Roy, Becker, Julian, Milz, Esther, Kornhuber, Johannes
ORCID: 0000-0002-8096-3987, Peters, Oliver, Froelich, Lutz, Huell, Michael, Ruether, Eckart, Wiltfang, Jens
ORCID: 0000-0003-1492-5330, Riedel-Heller, Steffi, Scherer, Martin, Jessen, Frank, Maier, Wolfgang, van den Hove, Daniel L., Rutten, Bart P. F., Wagner, Michael
ORCID: 0000-0003-2589-6440 and Ramirez, Alfredo
ORCID: 0000-0003-4991-763X
(2016).
No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment.
Epigenomics, 8 (5).
S. 593 - 599.
LONDON:
FUTURE MEDICINE LTD.
ISSN 1750-192X
Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin
ORCID: 0000-0003-0683-9731, Kayserili, Hulya
ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth
ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar
ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo
ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas
ORCID: 0000-0001-5426-9417, Meitinger, Thomas
ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd
(2015).
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J. Clin. Invest., 125 (9).
S. 3585 - 3600.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Carolina Dalmasso, Maria, Ignacio Brusco, Luis, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Heilmann-Heimbach, Stefanie, Hoffmann, Per ORCID: 0000-0002-6573-983X, Prestia, Federico A., Galeano, Pablo, Sanchez Avalos, Mariana Soledad, Eduardo Martinez, Luis, Estela Carulla, Mariana, Javier Azurmendi, Pablo, Liberczuk, Cynthia, Fezza, Cristina, Sampano, Marcelo, Fierens, Maria, Jemar, Guillermo, Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Bosco, Paolo, Bossu, Paola, Spalletta, Gianfranco
ORCID: 0000-0002-7432-4249, Galimberti, Daniela
ORCID: 0000-0002-9284-5953, Mancuso, Michelangelo
ORCID: 0000-0003-2738-8562, Nacmias, Benedetta, Sorbi, Sandro, Mecocci, Patrizia
ORCID: 0000-0003-0729-5246, Pilotto, Alberto, Caffarra, Paolo, Panza, Francesco
ORCID: 0000-0002-7220-0656, Bullido, Maria
ORCID: 0000-0002-6477-1117, Clarimon, Jordi, Sanchez-Juan, Pascual, Coto, Eliecer, Sanchez-Garcia, Florentino, Graff, Caroline, Ingelsson, Martin, Bellenguez, Celine
ORCID: 0000-0002-1240-7874, Miguel Castano, Eduardo, Kairiyama, Claudia, Gustavo Politis, Daniel, Kochen, Silvia, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Alberto Mangone, Carlos, Lambert, Jean-Charles, Morelli, Laura and Ramirez, Alfredo
ORCID: 0000-0003-4991-763X
(2019).
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.
Transl. Psychiatr., 9.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 2158-3188
Franzmeier, Nicolai, Ren, Jinyi, Damm, Alexander, Monte-Rubio, Gemma, Boada, Merce, Ruiz, Agustin, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Jessen, Frank, Duezel, Emrah, Rodriguez Gomez, Octavio, Benzinger, Tammie, Goate, Alison, Karch, Celeste M., Fagan, Anne M., McDade, Eric, Buerger, Katharina, Levin, Johannes
ORCID: 0000-0001-5092-4306, Duering, Marco, Dichgans, Martin, Suarez-Calvet, Marc, Haass, Christian, Gordon, Brian A., Lim, Yen Ying
ORCID: 0000-0002-0308-5156, Masters, Colin L., Janowitz, Daniel, Catak, Cihan, Wolfsgruber, Steffen, Wagner, Michael
ORCID: 0000-0003-2589-6440, Milz, Esther, Moreno-Grau, Sonia, Teipel, Stefan, Grothe, Michel J., Kilimann, Ingo, Rossor, Martin, Fox, Nick, Laske, Christoph, Chhatwal, Jasmeer, Falkai, Peter
ORCID: 0000-0003-2873-8667, Perneczky, Robert, Lee, Jae-Hong, Spottke, Annika, Boecker, Henning
ORCID: 0000-0003-2346-0598, Brosseron, Frederic, Fliessbach, Klaus, Heneka, Michael T., Nestor, Peter, Peters, Oliver
ORCID: 0000-0003-0568-2998, Fuentes, Manuel, Menne, Felix
ORCID: 0000-0003-1574-4443, Priller, Josef
ORCID: 0000-0001-7596-0979, Spruth, Eike J., Franke, Christiana
ORCID: 0000-0002-5609-2472, Schneider, Anja
ORCID: 0000-0001-9540-8700, Westerteicher, Christine, Speck, Oliver
ORCID: 0000-0002-6019-5597, Wiltfang, Jens, Bartels, Claudia, Araque Caballero, Miguel angel, Metzger, Coraline, Bittner, Daniel, Salloway, Stephen, Danek, Adrian
ORCID: 0000-0001-8857-5383, Hassenstab, Jason, Yakushev, Igor
ORCID: 0000-0003-4764-798X, Schofield, Peter R., Morris, John C., Bateman, Randall J. and Ewers, Michael
(2021).
The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease.
Mol. Psychiatr., 26 (2).
S. 614 - 629.
LONDON:
SPRINGERNATURE.
ISSN 1476-5578
Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar
ORCID: 0000-0003-2812-6492 and Wollnik, Bernd
(2011).
A mutation screen in patients with Kabuki syndrome.
Hum. Genet., 130 (6).
S. 715 - 725.
NEW YORK:
SPRINGER.
ISSN 0340-6717
Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan
ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda
(2014).
The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum. Genet., 133 (1).
S. 29 - 40.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel
ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin
ORCID: 0000-0003-0683-9731, Kayserili, Hulya
ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna
ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina
ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata
ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas
ORCID: 0000-0001-5426-9417, Mari, Francesca
ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita
ORCID: 0000-0003-2930-3163, Renieri, Alessandra
ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane
ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd
(2013).
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum. Mol. Genet., 22 (25).
S. 5121 - 5136.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083