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Author/Creator Grasshoff, Ute

2. A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies. (20th May 2022)

Authors:
Dufke, Andreas; Hoopmann, Markus; Waldmüller, Stephan; Prodan, Natalia Carmen; Beck‐Wödl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Müller, Amelie J.; Grimmel, Mona; Stöbe,...
Other Names:
Van den Veyver Igna guestEditor.
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 7(2022)
Page Start:
901
Record Type:
Journal Article
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3. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. Issue 9 (26th July 2012)

Authors:
Begemann, Matthias; Spengler, Sabrina; Gogiel, Magdalena; Grasshoff, Ute; Bonin, Michael; Betz, Regina C; Dufke, Andreas; Spier, Isabel; Eggermann, Thomas
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 9(2012)
Page Start:
547
Record Type:
Journal Article
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4. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020)

Authors:
Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
251
Record Type:
Journal Article
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5. De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. Issue 4 (22nd August 2019)

Authors:
Park, Joohyun; Flores, Bianca R; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 4(2020)
Page Start:
283
Record Type:
Journal Article
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6. Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany. Issue 2 (24th July 2018)

Authors:
Hinreiner, Sophie; Wieczorek, Dagmar; Mueller, Dietmar; Roedl, Tanja; Thiel, Gundula; Grasshoff, Ute; Chaoui, Rabih; Hehr, Ute
Other Names:
Kruszka Paul S. guestEditor.; Solomon Benjamin D. guestEditor.; Muenke Maximilian guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 178:Issue 2(2018)
Page Start:
198
Record Type:
Journal Article
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7. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors. Issue 2 (14th January 2014)

Authors:
Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G. Chri...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 2(2014:Mar.)
Page Start:
176
Record Type:
Journal Article
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8. Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms. (March 2015)

Authors:
Kehrer, Martin; Liehr, Thomas; Benkert, Tanja; Singer, Sylke; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Weichselbaum, Annette; Tzschach, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
653
Record Type:
Journal Article
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9. Isolated cytokine‐enriched pericardial effusion: A likely key feature for Aymé‐Gripp syndrome. Issue 2 (12th October 2021)

Authors:
König, Anna‐Lina; Sabir, Hemmen; Strizek, Brigitte; Gembruch, Ulrich; Herberg, Ulrike; Bertrand, Miriam; Grasshoff, Ute; Wiegand, Gesa; Wiechers, Cornelia; Bernis, Eugenia; Reutter, Heiko; Müller, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 2(2022)
Page Start:
624
Record Type:
Journal Article
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10. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?. Issue 1 (December 2015)

Authors:
Ehret, Julia; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis,...
Journal:
Molecular cytogenetics
Issue:
Volume 8:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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