Arama Sonuçları - Wieczorek, Dagmar

Autosomal dominant intellectual disability Yazar: Wieczorek, Dagmar

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Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? Yazar: Kuhlen, Michaela, Taeubner, Julia, Wieczorek, Dagmar, Borkhardt, Arndt

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Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes Yazar: Balliu, Brunilda, Würtz, Rolf P., Horsthemke, Bernhard, Wieczorek, Dagmar, Böhringer, Stefan

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Family-based germline sequencing in children with cancer Yazar: Kuhlen, Michaela, Taeubner, Julia, Brozou, Triantafyllia, Wieczorek, Dagmar, Siebert, Reiner, Borkhardt, Arndt

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Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant Yazar: Hanker, Britta, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis Yazar: Kraemer, Markus, Huynh, Quoc Bao, Wieczorek, Dagmar, Balliu, Brunilda, Mikat, Barbara, Boehringer, Stefan

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Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES Yazar: Brozou, Triantafyllia, Taeubner, Julia, Velleuer, Eunike, Dugas, Martin, Wieczorek, Dagmar, Borkhardt, Arndt, Kuhlen, Michaela

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Correction to: Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES Yazar: Brozou, Triantafyllia, Taeubner, Julia, Velleuer, Eunike, Dugas, Martin, Wieczorek, Dagmar, Borkhardt, Arndt, Kuhlen, Michaela

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Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia Yazar: Höppner, Jakob, Lais, Sabrina, Roll, Claudia, Wegener-Panzer, Andreas, Wieczorek, Dagmar, Högler, Wolfgang, Grasemann, Corinna

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Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment Yazar: Grothaus, Katrin, Kanber, Deniz, Gellhaus, Alexandra, Mikat, Barbara, Kolarova, Julia, Siebert, Reiner, Wieczorek, Dagmar, Horsthemke, Bernhard

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

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Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene Yazar: Nagy, Rebecca, Wang, Heng, Albrecht, Beate, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Haan, Eric, Meinecke, Peter, de la Chapelle, Albert, Westman, Judith A.

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Rare Copy Number Variants Are a Common Cause of Short Stature Yazar: Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.

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Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Yazar: Gössling, Katharina L., Schipp, Cyrill, Fischer, Ute, Babor, Florian, Koch, Gerhard, Schuster, Friedhelm R., Dietzel-Dahmen, Jutta, Wieczorek, Dagmar, Borkhardt, Arndt, Meisel, Roland, Kuhlen, Michaela

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects Yazar: Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.

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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene Yazar: Freunscht, Inga, Popp, Bernt, Blank, Rainer, Endele, Sabine, Moog, Ute, Petri, Holger, Prott, Eva-Christina, Reis, Andre, Rübo, Jochen, Zabel, Bernhard, Zenker, Martin, Hebebrand, Johannes, Wieczorek, Dagmar

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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth Yazar: Schäfgen, Johanna, Cremer, Kirsten, Becker, Jessica, Wieland, Thomas, Zink, Alexander M, Kim, Sarah, Windheuser, Isabelle C, Kreiß, Martina, Aretz, Stefan, Strom, Tim M, Wieczorek, Dagmar, Engels, Hartmut

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Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient Yazar: Eidson, Maggie, Wahlstrom, Justin, Beaulieu, Aimee M., Zaidi, Bushra, Carsons, Steven E., Crow, Peggy K., Yuan, Jianda, Wolchok, Jedd D., Horsthemke, Bernhard, Wieczorek, Dagmar, Sant'Angelo, Derek B.

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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome Yazar: Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Barić, Ivo, Paležac, Lidija, Ćuk, Mario, Petković Ramadža, Danijela, Krüger, Ulrike, Demuth, Stephanie, Heinritz, Wolfram, Linden, Tobias, Koenig, Jens, Robinson, Peter N, Krawitz, Peter

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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome Yazar: van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank

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