Auflistung nach Autor "Grasshoff, Ute"

12q24.33 Deletion: Report of a Patient With Intellectual Disability and Review of the Literature

Kehrer, Martin; Singer, Sylke; Grasshoff, Ute; Bonin, Michael; Tzschach, Andreas; Schäferhoff, Karin; Rieß, Olaf; Schöning, Martin (2013)

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL

Grasshoff, Ute; Bonin, Michael; Rieß, Olaf (2012)

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)

An early onset cone dystrophy due to CEP290 mutation: a case report

Kohl, Susanne; Grasshoff, Ute; Stingl, Katarina; Schäferhoff, Karin (2023)

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Grasshoff, Ute; Beck-Wödl, Stefanie (2017)

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Grimmel, Mona; Grasshoff, Ute; Gauck, Darja; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Haen, Susanne; Hoopmann, Markus; Ossowski, Stephan; Dufke, Andreas; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Waldmüller, Stephan; Beck-Wödl, Stefanie; Rieß, Olaf; Kagan, Karl Oliver; Haack, Tobias (2023)

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Grossmann, Benita; Grimmel, Mona; Grasshoff, Ute; LRad, Aboulfaz; Vona, Barbara; Haack, Tobias (2021-10-07)

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Begemann, Matthias; Spengler, Sabrina; Gogiel, Magdalena; Grasshoff, Ute; Bonin, Michael; Dufke, Andreas (2012)

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients

Laugwitz, Lucia; Reich, Selina; Kern, Jan; Bender, Benjamin; Grasshoff, Ute; Haack, Tobias; Traschütz, Andreas; Schöls, Ludger; Synofzik, Matthis (2020)

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Park, Joohyun; Küpper, Hanna; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Haack, Tobias (2020)

First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extreme rare diseases with probable further implications

Montes-Mojarro, Ivonne A.; Bonzheim, Irina; Stäbler, Antje Ulrike; Grasshoff, Ute; Rammensee, Hans-Georg; Kanz, Lothar; Beckert, Stefan; Löffler, Markus W.; Steinhilber, Julia Perdika; Hilke, Franz Joachim; Haen, Sebastian P.; Faust, Ulrike E. A.; Königsrainer, Ingmar; Königsrainer, Alfred; Rieß, Olaf; Schroeder, Christopher; Bösmüller, Hans (2018)

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany

Grasshoff, Ute (2018)

Genome-wide UPD screening in patients with intellectual disability

Schroeder, Christopher; Grasshoff, Ute; Sturm, Marc; Vosseler, Vanessa; Poths, Sven; Dufke, Andreas; Bonin, Michael; Mau-Holzmann, Ulrike A.; Rieß, Olaf (2014)

Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders

Grasshoff, Ute; Bevot, Andrea (2023)

GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations

Buchert, Rebecca; Frauenfeld, Leonie; Grasshoff, Ute (2020)

Interstitial 3p25.3-p26.1 Deletion in a Patient With Intellectual Disability

Riess, Angelika; Grasshoff, Ute; Bonin, Michael; Horber, Veronka; Tzschach, Andreas; Schäferhoff, Karin; Rieß, Olaf (2012)

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

Tzschach, Andreas; Grasshoff, Ute; Bonin, Michael; Dufke, Andreas; Wolff, Markus; Haas-Lude, Karin; Bevot, Andrea; Rieß, Olaf; Schäferhoff, Karin (2012)

Interstitial Duplication of Chromosome Region 1q25.1q25.3: Report of a Patient With Mild Cognitive Deficits, Tall Stature and Facial Dysmorphisms

Kehrer, Martin; Benkert, Tanja; Singer, Sylke; Grasshoff, Ute; Bonin, Michael; Weichselbaum, Annette; Tzschach, Andreas; Schäferhoff, Karin (2015)

Isolated cytokine-enriched pericardial effusion: A likely key feature for Ayme-Gripp syndrome

Bertrand, Miriam; Grasshoff, Ute; Wiegand, Gesa; Wiechers, Cornelia (2022)

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?

Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Bevot, Andrea; Dufke, Andreas (2015)

Auflistung nach Autor "Grasshoff, Ute"

Auflistung nach Autor "Grasshoff, Ute"

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