Einträge von Hehr, Ute auf dem Publikationsserver

Kurz, Bernadett, Koschitzki, Kevin-Thomas, Hehr, Ute, Germer, Ute, Schreml, Julia, Langhammer, Florian und Schreml, Stephan (2023) Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10. JAAD Case Reports 35, S. 74-76.

Krach, Florian , Stemick, Judith, Boerstler, Tom , Weiss, Alexander, Lingos, Ioannis, Reischl, Stephanie, Meixner, Holger, Ploetz, Sonja, Farrell, Michaela, Hehr, Ute, Kohl, Zacharias, Winner, Beate und Winkler, Juergen (2022) An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons. Nature Communications 13 (1). Volltext nicht vorhanden.

Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham , Rühlemann, Malte C., Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M., Wienbrandt, Lars , Blandino Ortiz, Aaron, de Salazar, Adolfo, Garrido Chercoles, Adolfo, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela , Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo , Braun, Alice , Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin , Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea , Gori, Andrea, Glück, Andreas, Lind, Andreas , Tanck, Anja, Hinney, Anke, Carreras Nolla, Anna, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Muscatello, Antonio, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Nafria-Jimenez, Beatriz, Schaefer, Benedikt, Jensen, Björn , Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, de la Horra, Carmen, Quereda, Carmen, Skurk, Carsten, Thibeault, Charlotte , Scollo, Chiara, Herr, Christian, Spinner, Christoph D. , Gassner, Christoph, Lange, Christoph, Hu, Cinzia, Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Bianco, Cristiana, Cea, Cristina, Sancho, Cristina, Hoff, Dag Arne Lihaug, Galimberti, Daniela , Prati, Daniele, Haschka, David, Jiménez, David, Pestaña, David, Toapanta, David, Muñiz-Diaz, Eduardo, Azzolini, Elena, Sandoval, Elena, Binatti, Eleonora , Scarpini, Elio, Helbig, Elisa T., Casalone, Elisabetta , Urrechaga, Eloisa, Paraboschi, Elvezia Maria , Pontali, Emanuele, Reverter, Enric, Calderón, Enrique J., Navas, Enrique, Solligård, Erik, Contro, Ernesto, Arana-Arri, Eunate, Aziz, Fátima, Garcia, Federico, García Sánchez, Félix, Ceriotti, Ferruccio, Martinelli-Boneschi, Filippo, Peyvandi, Flora, Kurth, Florian, Blasi, Francesco, Malvestiti, Francesco , Medrano, Francisco J., Mesonero, Francisco, Rodriguez-Frias, Francisco, Hanses, Frank, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Albano, Giovanni, Cardamone, Giulia, Bellelli, Giuseppe, Citerio, Giuseppe , Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido , Kurihara, Hayato, Neb, Holger, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, de Rojas, Itziar, Galván-Femenia, Iván, Holter, Jan Cato, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Martín, Javier, Erdmann, Jeanette, Banales, Jesus M., Badia, Joan Ramon, Dopazo, Joaquin, Schneider, Jochen, Bergan, Jonas , Barretina, Jordi, Walter, Jörn, Hernández Quero, Jose, Goikoetxea, Josune, Delgado, Juan, Guerrero, Juan M., Fazaal, Julia, Kraft, Julia , Schröder, Julia, Risnes, Kari , Banasik, Karina , Müller, Karl Erik, Gaede, Karoline I., Garcia-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Izquierdo-Sanchez, Laura, Bettini, Laura Rachele, Sumoy, Lauro , Sander, Leif Erik, Lippert, Lena J., Terranova, Leonardo, Nkambule, Lindokuhle, Knopp, Lisa, Gustad, Lise Tuset , Garbarino, Lucia, Santoro, Luigi, Téllez, Luis, Roade, Luisa, Ostadreza, Mahnoosh, Intxausti, Maider, Kogevinas, Manolis, Riveiro-Barciela, Mar, Berger, Marc M. , Schaefer, Marco, Niemi, Mari E. K., Gutiérrez-Stampa, María A., Carrabba, Maria, Figuera Basso, Maria E., Valsecchi, Maria Grazia, Hernandez-Tejero, María, Vehreschild, Maria J. G. T., Manunta, Maria , Acosta-Herrera, Marialbert , D'Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M., Cornberg, Markus, Nöthen, Markus M., Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia , Cecconi, Maurizio, D'Amato, Mauro, Augustin, Max, Tomasi, Melissa, Boada, Mercè, Dreher, Michael, Seilmaier, Michael J., Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Miozzo, Monica, Imaz Ayo, Natale, Blay, Natalia , Chueca, Natalia, Montano, Nicola, Braun, Nicole , Ludwig, Nicole , Marx, Nikolaus, Martínez, Nilda, Cornely, Oliver A. , Witzke, Oliver, Palmieri, Orazio, Faverio, Paola, Preatoni, Paoletta, Bonfanti, Paolo, Omodei, Paolo, Tentorio, Paolo, Castro, Pedro, Rodrigues, Pedro M., España, Pedro Pablo, Hoffmann, Per, Rosenstiel, Philip, Schommers, Philipp, Suwalski, Phillip, de Pablo, Raúl, Ferrer, Ricard, Bals, Robert , Gualtierotti, Roberta, Gallego-Durán, Rocío, Nieto, Rosa, Carpani, Rossana, Morilla, Rubén, Badalamenti, Salvatore, Haider, Sammra, Ciesek, Sandra, May, Sandra, Bombace, Sara, Marsal, Sara, Pigazzini, Sara, Klein, Sebastian, Pelusi, Serena, Wilfling, Sibylle, Bosari, Silvano, Volland, Sonja , Brunak, Søren, Raychaudhuri, Soumya, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne , Wesse, Tanja, Zheng, Tenghao, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomas, Feldt, Torsten, Folseraas, Trine, Gonzalez Cejudo, Trinidad, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Friaza, Vicente , Andrade, Victor, Moreno, Victor, Albrecht, Wolfgang, Peter, Wolfgang, Poller, Wolfgang, Farre, Xavier, Yi, Xiaoli, Wang, Xiaomin, Khodamoradi, Yascha , Karadeniz, Zehra, Latiano, Anna, Goerg, Siegfried, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Schulte, Eva C. , Heidecker, Bettina, Ludwig, Kerstin U. , Fernández, Javier, Romero-Gómez, Manuel, Albillos, Agustín, Invernizzi, Pietro, Buti, Maria, Duga, Stefano, Bujanda, Luis, Hov, Johannes R., Lenz, Tobias L., Asselta, Rosanna, de Cid, Rafael, Valenti, Luca , Karlsen, Tom H., Cáceres, Mario und Franke, Andre (2022) Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Human Molecular Genetics 31 (23), S. 3945-3966. Volltext nicht vorhanden.

Kaindl, Angela M., Hennermann, Julia B., Niller, Hans H., Hehr, Ute, von Bernuth, Horst, Chaoui, Rabih, Landwehr-Kenzel, Sybille, Hahn, Gabriele, Mundlos, Christine, Thomale, Ulrich-Wilhelm, Rosenbaum, Thorsten, Moog, Ute, Horn, Denise und von der Hagen, Maja (2022) Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie. Monatsschrift Kinderheilkunde 170 (10), S. 929-933. Volltext nicht vorhanden.

Carlens, Julia, Johnson, K. Taneille, Bush, Andrew, Renz, Diane, Hehr, Ute, Laenger, Florian, Hogg, Claire, Wetzke, Martin, Schwerk, Nicolaus und Rayment, Jonathan H. (2022) Heterogenous Disease Course and Long-Term Outcome of Children’s Interstitial Lung Disease Related to Filamin A Gene Variants. Annals of the American Thoracic Society 19 (12), S. 2021-2030. Volltext nicht vorhanden.

Lubnow, Matthias , Schmidt, Barbara, Fleck, Martin, Salzberger, Bernd, Müller, Thomas, Peschel, Georg, Schneckenpointner, Roland, Lange, Tobias, Hitzenbichler, Florian , Kieninger, Martin, Lunz, Dirk, Graf, Bernhard, Brochhausen, Christoph, Weber, Florian, Lüke, Florian, Peterhoff, David, Schuster, Philipp, Hiergeist, Andreas, Offner, Robert, Hehr, Ute, Wallner, Stefan, Hanses, Frank , Schmid, Stephan, Weigand, Kilian, Geismann, Florian , Poeck, Hendrik, Pukrop, Tobias, Evert, Matthias, Gessner, Andre, Burkhardt, Ralph , Herr, Wolfgang, Maier, Lars S. und Heudobler, Daniel (2021) Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression. International Journal of Infectious Diseases 103 (2021), S. 624-627.

Khuller, Katharina, Yigit, Gökhan, Martínez Grijalva, Carolina, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Köninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd und Kuechler, Alma (2021) MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. European Journal of Medical Genetics 64 (10), S. 104310. Volltext nicht vorhanden.

Brock, Stefanie , Vanderhasselt, Tim , Vermaning, Sietske, Keymolen, Kathelijn , Régal, Luc , Romaniello, Romina , Wieczorek, Dagmar , Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb , Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B. , Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C. und Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), S. 33-40. Volltext nicht vorhanden.

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 und Kuechler, Alma (2020) Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases 15 (1). Volltext nicht vorhanden.

Oegema, Renske , Barakat, Tahsin Stefan , Wilke, Martina, Stouffs, Katrien , Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio , Fry, Andrew E. , Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana , Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S. , Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo , Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C. , Mancini, Grazia M. S. und Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), S. 618-635. Volltext nicht vorhanden.

Dadak, Mete, Pul, Refik, Lanfermann, Heinrich, Hartmann, Hans, Hehr, Ute, Donnerstag, Frank, Michels, Dirk und Tryc, Anita Blanka (2020) Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood. Clinical Neuroradiology 30 (2), S. 243-249. Volltext nicht vorhanden.

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 und Kölbel, Heike (2019) Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet Journal of Rare Diseases 14 (1). Volltext nicht vorhanden.

Hehr, Andreas, Paulmann, Bernd, Gassner, Claudia, Krauß-Dreher, Susann, Seifert, Bernd und Hehr, Ute (2019) Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg. medizinische genetik 31 (3), S. 266-274. Volltext nicht vorhanden.

Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B. , Kraus, Cornelia, Krumbiegel, Mandy, Reis, André , Thiel, Christian T. und Popp, Bernt (2019) The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases 14 (1). Volltext nicht vorhanden.

Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo und Hehr, Ute (2018) Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Molecular Genetics & Genomic Medicine 6 (6), S. 1255-1260. Volltext nicht vorhanden.

Dittrich, Ralf, Kliesch, Sabine, Schüring, Andreas, Balcerek, Magdalena, Baston-Büst, Dunja, Beck, Ramona, Beckmann, Matthias, Behringer, Karolin, Borgmann-Staudt, Anja, Cremer, Wolfgang, Denzer, Christian, Diemer, Thorsten, Dorn, Almut, Fehm, Tanja, Gaase, Rüdiger, Germeyer, Ariane, Geue, Kristina, Ghadjar, Pirus, Goeckenjan, Maren, Götte, Martin, Guth, Dagmar, Hauffa, Berthold, Hehr, Ute, Hetzer, Franc, Hirchenhain, Jens, Hoffmann, Wilfried, Hornemann, Beate, Jantke, Andreas, Kentenich, Heribert, Kiesel, Ludwig, Köhn, Frank-Michael, Korell, Matthias, Lax, Sigurd, Liebenthron, Jana, Lux, Michael, Meißner, Julia, Micke, Oliver, Nassar, Najib , Nawroth, Frank, Nordhoff, Verena , Ochsendorf, Falk, Oppelt, Patricia, Pelz, Jörg, Rau, Beate, Reisch, Nicole, Riesenbeck, Dorothea, Schlatt, Stefan, Sender, Annekathrin, Schwab, Roxana, Siedentopf, Friederike, Thorn, Petra, Wagner, Steffen, Wildt, Ludwig, Wimberger, Pauline, Wischmann, Tewes, von Wolff, Michael und Lotz, Laura (2018) Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) – Recommendations and Statements for Girls and Women. Geburtshilfe und Frauenheilkunde 78 (06), S. 567-584. Volltext nicht vorhanden.

Hinreiner, Sophie, Wieczorek, Dagmar, Mueller, Dietmar, Roedl, Tanja, Thiel, Gundula, Grasshoff, Ute, Chaoui, Rabih und Hehr, Ute (2018) Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 178 (2), S. 198-205. Volltext nicht vorhanden.

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 und Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), S. 183-191. Volltext nicht vorhanden.

Dammann, Philipp, Wrede, Karsten, Zhu, Yuan, Matsushige, Toshinori, Maderwald, Stefan, Umutlu, Lale, Quick, Harald H., Hehr, Ute, Rath, Matthias, Ladd, Mark E., Felbor, Ute und Sure, Ulrich (2017) Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. Journal of Neurosurgery 126 (2), S. 570-577. Volltext nicht vorhanden.

Jahic, Amir, Hinreiner, Sophie, Emberger, Werner, Hehr, Ute, Zuchner, Stephan und Beetz, Christian (2017) Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Human Mutation 38 (3), S. 275-278. Volltext nicht vorhanden.

Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia , Citterio, Andrea , Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara , Oehl-Jaschkowitz, Barbara, Rossi, Andrea , Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria und Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology 27 (12), S. 5080-5092. Volltext nicht vorhanden.

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 und Felbor, Ute (2016) Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Molecular Genetics & Genomic Medicine 5 (1), S. 21-27. Volltext nicht vorhanden.

Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna und Beetz, Christian (2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Human Mutation 37 (7), S. 703-709. Volltext nicht vorhanden.

Karrasch, Thomas, Herbst, Saskia M., Hehr, Ute, Schmid, Andreas und Schäffler, Andreas (2016) How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies? European Thyroid Journal 5 (1), S. 73-77. Volltext nicht vorhanden.

Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt , Hehr, Ute, Müller, Clemens R. und Rost, Simone (2016) Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. European Journal of Human Genetics 24 (10), S. 1467-1472. Volltext nicht vorhanden.

Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J. , Schuierer, Gerhard und Hehr, Ute (2016) LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain and Development 38 (4), S. 399-406. Volltext nicht vorhanden.

Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor , Nader, Sean, Shah, Hitesh, Wickert, Julia und Kutsche, Kerstin (2016) Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC Medical Genetics 17 (1). Volltext nicht vorhanden.

Hehr, Andreas, Paulmann, Bernd, Eichhammer, Lisa, Gassner, Claudia, Seifert, Bernd und Hehr, Ute (2016) Präimplantationsdiagnostik – methodische Aspekte. medizinische genetik 28 (3), S. 332-341. Volltext nicht vorhanden.

Busche, Andreas, Hehr, Ute, Sieg, Peter und Gillessen-Kaesbach, Gabriele (2016) Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation inIRF6. American Journal of Medical Genetics Part A 170 (9), S. 2404-2407. Volltext nicht vorhanden.

Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia , Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute und Smitka, Martin (2016) Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain and Development 38 (8), S. 777-780. Volltext nicht vorhanden.

Zimmermann, Martina E., Fuerstenau-Sharp, Maya, Stark, Klaus, Jentsch, Nico, Klingenstein, Melanie, Drzymalski, Marzena, Wagner, Stefan, Maier, Lars S., Baessler, Andrea, Fischer, Marcus, Hengstenberg, Christian und Hehr, Ute (2015) Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells. PLoS ONE 10 (5), S. 1-21.

Brandl, Caroline, Zimmermann, Stephanie J., Milenkovic, Vladimir M., Rosendahl, S. M., Grassmann, Felix, Milenkovic, Andrea, Hehr, Ute, Federlin, Marianne, Wetzel, Christian H., Helbig, Horst und Weber, Bernhard H. F. (2014) In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC). NeuroMolecular Medicine 16, S. 551-564.

Solomon, B. D., Bear, K. A., Wyllie, A. und Hehr, Ute (2012) Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Journal of Medical Genetics 49, S. 473-479.

Hehr, Ute, Bauer, Peter, Winner, Beate, Bogdahn, Ulrich und Weber, Bernhard H. F. (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Annals of Neurology 27, S. 381-392. Volltext nicht vorhanden.