Browsing Universitätsbibliographie by Author "Stampfer, Miriam"

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

Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Bolton, Shaun C.; Soran, Vina; Marfa, Mercedes Pineda; Imrie, Jackie; Gissen, Paul; Jahnova, Helena; Sharma, Reena; Jones, Simon; Santra, Saikat; Crushell, Ellen; Stampfer, Miriam; Coll, Maria Jose; Dawson, Charlotte; Mathieson, Toni; Green, James; Dardis, Andrea; Bembi, Bruno; Patterson, Marc C.; Vanier, Marie T.; Geberhiwot, Tarekegn (2022)
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Gburek-Augustat, Janina; Groeschel, Samuel; Kern, Jan; Beck-Woedl, Stefanie; Just, Jennifer; Harzer, Klaus; Stampfer, Miriam; Kraegeloh-Mann, Ingeborg (2020)
Consensus clinical management guidelines for Niemann-Pick disease type C

Geberhiwot, Tarekegn; Moro, Alessandro; Dardis, Andrea; Ramaswami, Uma; Sirrs, Sandra; Marfa, Mercedes Pineda; Vanier, Marie T.; Walterfang, Mark; Bolton, Shaun; Dawson, Charlotte; Heron, Benedicte; Stampfer, Miriam; Imrie, Jackie; Hendriksz, Christian; Gissen, Paul; Crushell, Ellen; Coll, Maria J.; Nadjar, Yann; Kluenemann, Hans; Mengel, Eugen; Hrebicek, Martin; Jones, Simon A.; Ory, Daniel; Bembi, Bruno; Patterson, Marc (2018)
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Reuter, Miriam S.; Riess, Angelika; Moog, Ute; Briggs, Tracy A.; Chandler, Kate E.; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Glaeser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Woedl, Stefanie; Kohlhase, Juergen; Reis, Andre; Zweier, Christiane (2017)
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

Synofzik, Matthis; Harmuth, Florian; Stampfer, Miriam; Hagen, Jennifer Mueller Vom; Schoels, Ludger; Bauer, Peter (2015)

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