Výsledky vyhledávání - Hehr, Ute

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies? Autor Karrasch, Thomas, Herbst, Saskia M., Hehr, Ute, Schmid, Andreas, Schäffler, Andreas

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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype Autor Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt, Hehr, Ute, Müller, Clemens R, Rost, Simone

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Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance Autor Gökdere, Sare, Schneider, Holm, Hehr, Ute, Willen, Laure, Schneider, Pascal, Maier-Wohlfart, Sigrun

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Maternally Inherited Heterozygous Sequence Change in the Sonic Hedgehog Gene in a Male Patient with Bilateral Closed-Lip Schizencephaly and Partial Absence of the Corpus Callosum Autor Schell-Apacik, Chayim Can, Ertl-Wagner, Birgit, Panzel, Axel, Klausener, Kerstin, Rausch, Gisbert, Muenke, Maximilian, von Voss, Hubertus, Hehr, Ute

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Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation Autor Edener, Ulf, Wöllner, Janine, Hehr, Ute, Kohl, Zacharias, Schilling, Stefan, Kreuz, Friedmar, Bauer, Peter, Bernard, Veronica, Gillessen-Kaesbach, Gabriele, Zühlke, Christine

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Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures Autor Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute

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WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes Autor Bohring, Axel, Stamm, Thomas, Spaich, Christiane, Haase, Claudia, Spree, Kerstin, Hehr, Ute, Hoffmann, Mandy, Ledig, Susanne, Sel, Saadettin, Wieacker, Peter, Röpke, Albrecht

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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients Autor Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor, Nader, Sean, Shah, Hitesh, Wickert, Julia, Kutsche, Kerstin

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Autor Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt

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The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism Autor Roessler, Erich, Lacbawan, Felicitas, Dubourg, Christèle, Paulussen, Aimee, Herbergs, Jos, Hehr, Ute, Bendavid, Claude, Zhou, Nan, Ouspenskaia, Maia, Bale, Sherri, Odent, Sylvie, David, Vèronique, Muenke, Maximilian

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Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells Autor Fuerstenau-Sharp, Maya, Zimmermann, Martina E., Stark, Klaus, Jentsch, Nico, Klingenstein, Melanie, Drzymalski, Marzena, Wagner, Stefan, Maier, Lars S., Hehr, Ute, Baessler, Andrea, Fischer, Marcus, Hengstenberg, Christian

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In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC) Autor Brandl, Caroline, Zimmermann, Stephanie J., Milenkovic, Vladimir M., Rosendahl, Sibylle M. G., Grassmann, Felix, Milenkovic, Andrea, Hehr, Ute, Federlin, Marianne, Wetzel, Christian H., Helbig, Horst, Weber, Bernhard H. F.

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Further evidence for POMK as candidate gene for WWS with meningoencephalocele Autor Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma

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Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly Autor Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen, Muenke, Maximilian

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Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations Autor Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars, Felbor, Ute

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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders Autor Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute, Kölbel, Heike

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The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or I... Autor Roessler, Erich, El-Jaick, Kenia B., Dubourg, Christèle, Vélez, Jorge I., Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique, Muenke, Maximilian

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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction Autor Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B., Navajas Acedo, Joaquin, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.

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Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons Autor Havlicek, Steven, Kohl, Zacharias, Mishra, Himanshu K., Prots, Iryna, Eberhardt, Esther, Denguir, Naime, Wend, Holger, Plötz, Sonja, Boyer, Leah, Marchetto, Maria C.N., Aigner, Stefan, Sticht, Heinrich, Groemer, Teja W., Hehr, Ute, Lampert, Angelika, Schlötzer-Schrehardt, Ursula, Winkler, Jürgen, Gage, Fred H., Winner, Beate

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Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition Autor Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B, Wieland, Thomas, Engels, Hartmut, Prokisch, Holger, Strom, Tim M, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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