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Number of items: 3.

Journal Article

Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara ORCID: 0000-0002-0939-3213, Hunter, Jill, V, McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cedric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Milian, Francisca, Wentzensen, Ingrid M., Person, Richard E., Kury, Sebastien, Bezieau, Stephane, Uguen, Kevin, Ferec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Pena, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja and Schaaf, Christian P. (2019). Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., 21 (8). S. 1797 - 1808. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Kargapolova, Yulia ORCID: 0000-0001-7541-5778, Rehimi, Rizwan, Kayserili, Huelya, Bruehl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Goekhan, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian ORCID: 0000-0003-1693-9699, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Altmueller, Janine, Nuernberg, Peter, Laengst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341, Kurian, Leo ORCID: 0000-0001-7466-5169, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Bouazoune, Karim and Papantonis, Argyris (2021). Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nat. Commun., 12 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma (2021). MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur. J. Med. Genet., 64 (10). AMSTERDAM: ELSEVIER. ISSN 1878-0849

This list was generated on Thu Mar 28 21:52:43 2024 CET.