Søgeresultater - Caliebe, Almuth

The Co‐Occurrence of Tricho‐Rhino‐Phalangeal Syndrome and Early‐Onset Levodopa‐Sensitive Parkinsonism af Hopfner, Franziska, Caliebe, Almuth, Deuschl, Günther, Schneider, Susanne A.

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Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia and skeletal abnormalities: a novel phenotype af Shah, Hitesh, Bens, Susanne, Caliebe, Almuth, Graham, John M., Girisha, Katta Mohan

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No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a p... af Frohnauer, Judith, Caliebe, Almuth, Gesk, Stefan, Partsch, Carl-Joachim, Siebert, Reiner, Pankau, Rainer, Jenderny, Jutta

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Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10 af Weimer, Jörg, Heidemann, Simone, von Kaisenberg, Constantin S, Grote, Werner, Arnold, Norbert, Bens, Susanne, Caliebe, Almuth

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A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome af Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin

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Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma af Prasuhn, Michelle, Freitag, Josephine Christin, Lüken, Sabine, Kakkassery, Vinodh, Merz, Hartmut, Caliebe, Almuth, Spielmann, Malte, Ranjbar, Mahdy, Rommel, Felix

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Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects af Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin

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Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects af Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin

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Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular kary... af Eckmann-Scholz, Christel, Gesk, Stefan, Nagel, Inga, Haake, Andrea, Bens, Susanne, Heidemann, Simone, Kautza, Monika, Timke, Christian, Siebert, Reiner, Caliebe, Almuth

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DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples af Eckmann-Scholz, Christel, Bens, Susanne, Kolarova, Julia, Schneppenheim, Sina, Caliebe, Almuth, Heidemann, Simone, von Kaisenberg, Constantin, Kautza, Monika, Jonat, Walter, Siebert, Reiner, Ammerpohl, Ole

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In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans af Kolarova, Julia, Ammerpohl, Ole, Gutwein, Jana, Welzel, Maik, Baus, Inka, Riepe, Felix G., Eggermann, Thomas, Caliebe, Almuth, Holterhus, Paul-Martin, Siebert, Reiner, Bens, Susanne

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A Giant Mammary Hamartoma in a Young Breast Cancer Patient af Rumpf, Anna-Lena, Mathiak, Micaela, Schäfer, Fritz K., Caliebe, Almuth, Farrokh, Andre, Elessawy, Mohamed, Bauerschlag, Dirk O., Maass, Nicolai, van Mackelenbergh, Marion, Heilmann, Thorsten

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Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma af Gebauer, Niklas, Witte, Hanno M., Merz, Hartmut, Oschlies, Ilske, Klapper, Wolfram, Caliebe, Almuth, Tharun, Lars, Spielmann, Malte, von Bubnoff, Nikolas, Feller, Alfred C., Murga Penas, Eva M.

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Frequency and characterization of DNA methylation defects in children born SGA af Bens, Susanne, Haake, Andrea, Richter, Julia, Leohold, Judith, Kolarova, Julia, Vater, Inga, Riepe, Felix G, Buiting, Karin, Eggermann, Thomas, Gillessen-Kaesbach, Gabriele, Platzer, Konrad, Prawitt, Dirk, Caliebe, Almuth, Siebert, Reiner

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Mutations in CDK5RAP2 cause Seckel syndrome af Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd

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DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs af Hoff, Kirstin, Lemme, Marta, Kahlert, Anne-Karin, Runde, Kerstin, Audain, Enrique, Schuster, Dorit, Scheewe, Jens, Attmann, Tim, Pickardt, Thomas, Caliebe, Almuth, Siebert, Reiner, Kramer, Hans-Heiner, Milting, Hendrik, Hansen, Arne, Ammerpohl, Ole, Hitz, Marc-Phillip

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Hematopoietic stem cell involvement in BCR-ABL1–positive ALL as a potential mechanism of resistance to blinatumomab therapy af Nagel, Inga, Bartels, Marius, Duell, Johannes, Oberg, Hans-Heinrich, Ussat, Sandra, Bruckmueller, Henrike, Ottmann, Oliver, Pfeifer, Heike, Trautmann, Heiko, Gökbuget, Nicola, Caliebe, Almuth, Kabelitz, Dieter, Kneba, Michael, Horst, Heinz-August, Hoelzer, Dieter, Topp, Max S., Cascorbi, Ingolf, Siebert, Reiner, Brüggemann, Monika

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Antiviral and regulatory T cell immunity in a patient with STIM1 deficiency() af Fuchs, Sebastian, Rensing-Ehl, Anne, Speckmann, Carsten, Bengsch, Bertram, Schmitt-Graeff, Annette, Bondzio, Ilka, Maul-Pavicic, Andrea, Bass, Thilo, Vraetz, Thomas, Strahm, Brigitte, Ankermann, Tobias, Benson, Melina, Caliebe, Almuth, Fölster-Holst, Regina, Kaiser, Petra, Thimme, Robert, Schamel, Wolfgang W., Schwarz, Klaus, Feske, Stefan, Ehl, Stephan

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Structural genomic variation in childhood epilepsies with complex phenotypes af Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby PC

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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome af Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan

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