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2021
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
2018
Dittrich, Ralf, Kliesch, Sabine, Schuering, Andreas, Balcerek, Magdalena, Baston-Buest, Dunja M., Beck, Ramona, Beckmann, Matthias W., Behringer, Karolin, Borgmann-Staudt, Anja, Cremer, Wolfgang, Denzer, Christian, Diemer, Thorsten, Dorn, Almut, Fehm, Tanja, Gaase, Ruediger, Germeyer, Ariane, Geue, Kristina, Ghadjar, Pirus, Goeckenjan, Maren, Goette, Martin, Guth, Dagmar, Hauffa, Berthold P., Hehr, Ute, Hetzer, Franc, Hirchenhain, Jens, Hoffmann, Wilfried, Hornemann, Beate, Jantke, Andreas, Kentenich, Heribert, Kiesel, Ludwig, Koehn, Frank-Michael, Korell, Matthias, Lax, Sigurd, Liebenthron, Jana, Lux, Michael, Meissner, Julia, Micke, Oliver, Nassar, Najib, Nawroth, Frank, Nordhoff, Verena ORCID: 0000-0001-5963-1366, Ochsendorf, Falk, Oppelt, Patricia G., Pelz, Joerg, Rau, Beate, Reisch, Nicole, Riesenbeck, Dorothea, Schlatt, Stefan, Sender, Annekathrin, Schwab, Roxana, Siedentopf, Friederike, Thorn, Petra, Wagner, Steffen, Wildt, Ludwig, Wimberger, Pauline, Wischmann, Tewes ORCID: 0000-0002-7837-0138, von Wolff, Michael and Lotz, Laura
(2018).
Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) - Recommendations and Statements for Girls and Women.
Geburtshilfe Frauenheilkd., 78 (6).
S. 567 - 584.
STUTTGART:
GEORG THIEME VERLAG KG.
ISSN 1438-8804
2016
Guenther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Huebner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna ORCID: 0000-0003-2975-4888 and Beetz, Christian ORCID: 0000-0001-7061-2895
(2016).
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum. Mutat., 37 (7).
S. 703 - 710.
HOBOKEN:
WILEY.
ISSN 1098-1004
Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J., Schuierer, Gerhard and Hehr, Ute (2016). LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev., 38 (4). S. 399 - 407. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131