Auflistung nach Autor "Menden, Benita"

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A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies

Dufke, Andreas; Hoopmann, Markus; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Grimmel, Mona; Gauck, Darja; Baumann, Sarah; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Ossowski, Stephan; Kagan, Karl Oliver; Waldmüller, Stephan; Prodan, Natalia; Beck-Wödl, Stefanie; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Buchert, Rebecca; Schäferhoff, Karin; Rieß, Olaf; Haack, Tobias (2022)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Park, Joohyun; Demidov, German; Velic, Ana; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Sturm, Marc; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Hengel, Holger; Hayer, Stefanie Nicole; Rieß, Olaf; Schöls, Ludger; Haack, Tobias (2022)
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review

Welzel, Tatjana; Oefelein, Lea; Holzer, Ursula; Haack, Tobias; Kümmerle-Deschner, Jasmin; Müller, Amelie Johanna; Menden, Benita (2022)

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