The Co‐Occurrence of Tricho‐Rhino‐Phalangeal Syndrome and Early‐Onset Levodopa‐Sensitive Parkinsonism

nork Hopfner, Franziska, Caliebe, Almuth, Deuschl, Günther, Schneider, Susanne A.
Argitaratua izan da Mov Disord Clin Pract (2014)

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia and skeletal abnormalities: a novel phenotype

nork Shah, Hitesh, Bens, Susanne, Caliebe, Almuth, Graham, John M., Girisha, Katta Mohan
Argitaratua 2012

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...

nork Frohnauer, Judith, Caliebe, Almuth, Gesk, Stefan, Partsch, Carl-Joachim, Siebert, Reiner, Pankau, Rainer, Jenderny, Jutta
Argitaratua 2010

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

nork Weimer, Jörg, Heidemann, Simone, von Kaisenberg, Constantin S, Grote, Werner, Arnold, Norbert, Bens, Susanne, Caliebe, Almuth
Argitaratua 2011

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

nork Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin
Argitaratua 2009

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

nork Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin
Argitaratua 2013

Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

nork Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin
Argitaratua 2013

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...

nork Eckmann-Scholz Christel, Gesk Stefan, Nagel Inga, Haake Andrea, Bens Susanne, Heidemann Simone, Kautza Monika, Timke Christian, Siebert Reiner, Caliebe Almuth
Argitaratua 2010-09-01

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...

nork Eckmann-Scholz, Christel, Gesk, Stefan, Nagel, Inga, Haake, Andrea, Bens, Susanne, Heidemann, Simone, Kautza, Monika, Timke, Christian, Siebert, Reiner, Caliebe, Almuth
Argitaratua 2010

DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples

nork Eckmann-Scholz, Christel, Bens, Susanne, Kolarova, Julia, Schneppenheim, Sina, Caliebe, Almuth, Heidemann, Simone, von Kaisenberg, Constantin, Kautza, Monika, Jonat, Walter, Siebert, Reiner, Ammerpohl, Ole
Argitaratua 2012

In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans

nork Kolarova, Julia, Ammerpohl, Ole, Gutwein, Jana, Welzel, Maik, Baus, Inka, Riepe, Felix G., Eggermann, Thomas, Caliebe, Almuth, Holterhus, Paul-Martin, Siebert, Reiner, Bens, Susanne
Argitaratua izan da PLoS One (2015)

A Giant Mammary Hamartoma in a Young Breast Cancer Patient

nork Rumpf, Anna-Lena, Mathiak, Micaela, Schäfer, Fritz K., Caliebe, Almuth, Farrokh, Andre, Elessawy, Mohamed, Bauerschlag, Dirk O., Maass, Nicolai, van Mackelenbergh, Marion, Heilmann, Thorsten
Argitaratua izan da Breast Care (Basel) (2021)

Frequency and characterization of DNA methylation defects in children born SGA

nork 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
Argitaratua 2013

Mutations in CDK5RAP2 cause Seckel syndrome

nork 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
Argitaratua izan da Mol Genet Genomic Med (2015)

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs

nork 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
Argitaratua izan da Clin Epigenetics (2019)

Hematopoietic stem cell involvement in BCR-ABL1–positive ALL as a potential mechanism of resistance to blinatumomab therapy

nork 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
Argitaratua izan da Blood (2017)

Antiviral and regulatory T cell immunity in a patient with STIM1 deficiency()

nork 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
Argitaratua 2011

Structural genomic variation in childhood epilepsies with complex phenotypes

nork 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
Argitaratua 2014

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

nork 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
Argitaratua izan da Am J Hum Genet (2014)

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

nork De Franco, Elisa, Watson, Rachel A., Weninger, Wolfgang J., Wong, Chi C., Flanagan, Sarah E., Caswell, Richard, Green, Angela, Tudor, Catherine, Lelliott, Christopher J., Geyer, Stefan H., Maurer-Gesek, Barbara, Reissig, Lukas F., Lango Allen, Hana, Caliebe, Almuth, Siebert, Reiner, Holterhus, Paul Martin, Deeb, Asma, Prin, Fabrice, Hilbrands, Robert, Heimberg, Harry, Ellard, Sian, Hattersley, Andrew T., Barroso, Inês
Argitaratua izan da Am J Hum Genet (2019)