Anzahl der Einträge: 34.
2023
Kurz, Bernadett,
Koschitzki, Kevin-Thomas,
Hehr, Ute,
Germer, Ute,
Schreml, Julia,
Langhammer, Florian und
Schreml, Stephan ![ORCID 0000-0002-2820-1942](/images/orcid_16x16.gif)
(2023)
Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10.
JAAD Case Reports 35, S. 74-76.
2022
Krach, Florian ![ORCID 0000-0002-4506-8792](/images/orcid_16x16.gif)
,
Stemick, Judith,
Boerstler, Tom ![ORCID 0000-0001-9920-9012](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1844-8279](/images/orcid_16x16.gif)
,
Rühlemann, Malte C.,
Arora, Jatin,
Özer, Onur,
Lenning, Ole Bernt,
Myhre, Ronny,
Vadla, May Sissel,
Wacker, Eike M.,
Wienbrandt, Lars ![ORCID 0000-0001-5685-2032](/images/orcid_16x16.gif)
,
Blandino Ortiz, Aaron,
de Salazar, Adolfo,
Garrido Chercoles, Adolfo,
Palom, Adriana,
Ruiz, Agustín,
Garcia-Fernandez, Alba-Estela ![ORCID 0000-0003-4957-0373](/images/orcid_16x16.gif)
,
Blanco-Grau, Albert,
Mantovani, Alberto,
Zanella, Alberto,
Holten, Aleksander Rygh,
Mayer, Alena,
Bandera, Alessandra,
Cherubini, Alessandro,
Protti, Alessandro,
Aghemo, Alessio,
Gerussi, Alessio,
Ramirez, Alfredo ![ORCID 0000-0003-4991-763X](/images/orcid_16x16.gif)
,
Braun, Alice ![ORCID 0000-0003-1145-0261](/images/orcid_16x16.gif)
,
Nebel, Almut,
Barreira, Ana,
Lleo, Ana,
Teles, Ana,
Kildal, Anders Benjamin ![ORCID 0000-0002-1319-6511](/images/orcid_16x16.gif)
,
Biondi, Andrea,
Caballero-Garralda, Andrea,
Ganna, Andrea ![ORCID 0000-0002-8147-240X](/images/orcid_16x16.gif)
,
Gori, Andrea,
Glück, Andreas,
Lind, Andreas ![ORCID 0000-0002-8289-8410](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1626-4855](/images/orcid_16x16.gif)
,
Bellinghausen, Carla,
Maj, Carlo,
Ferrando, Carlos,
de la Horra, Carmen,
Quereda, Carmen,
Skurk, Carsten,
Thibeault, Charlotte ![ORCID 0000-0002-8979-9386](/images/orcid_16x16.gif)
,
Scollo, Chiara,
Herr, Christian,
Spinner, Christoph D. ![ORCID 0000-0002-3875-5367](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-9284-5953](/images/orcid_16x16.gif)
,
Prati, Daniele,
Haschka, David,
Jiménez, David,
Pestaña, David,
Toapanta, David,
Muñiz-Diaz, Eduardo,
Azzolini, Elena,
Sandoval, Elena,
Binatti, Eleonora ![ORCID 0000-0002-2657-0496](/images/orcid_16x16.gif)
,
Scarpini, Elio,
Helbig, Elisa T.,
Casalone, Elisabetta ![ORCID 0000-0001-5392-0511](/images/orcid_16x16.gif)
,
Urrechaga, Eloisa,
Paraboschi, Elvezia Maria ![ORCID 0000-0002-7935-798X](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-2430-5883](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-5374-3161](/images/orcid_16x16.gif)
,
Foti, Giuseppe,
Lamorte, Giuseppe,
Matullo, Giuseppe,
Baselli, Guido ![ORCID 0000-0002-0234-6828](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-4267-8904](/images/orcid_16x16.gif)
,
Barretina, Jordi,
Walter, Jörn,
Hernández Quero, Jose,
Goikoetxea, Josune,
Delgado, Juan,
Guerrero, Juan M.,
Fazaal, Julia,
Kraft, Julia ![ORCID 0000-0001-7306-1179](/images/orcid_16x16.gif)
,
Schröder, Julia,
Risnes, Kari ![ORCID 0000-0001-6599-0146](/images/orcid_16x16.gif)
,
Banasik, Karina ![ORCID 0000-0003-2489-2499](/images/orcid_16x16.gif)
,
Müller, Karl Erik,
Gaede, Karoline I.,
Garcia-Etxebarria, Koldo,
Tonby, Kristian,
Heggelund, Lars,
Izquierdo-Sanchez, Laura,
Bettini, Laura Rachele,
Sumoy, Lauro ![ORCID 0000-0003-0005-4618](/images/orcid_16x16.gif)
,
Sander, Leif Erik,
Lippert, Lena J.,
Terranova, Leonardo,
Nkambule, Lindokuhle,
Knopp, Lisa,
Gustad, Lise Tuset ![ORCID 0000-0003-2709-3991](/images/orcid_16x16.gif)
,
Garbarino, Lucia,
Santoro, Luigi,
Téllez, Luis,
Roade, Luisa,
Ostadreza, Mahnoosh,
Intxausti, Maider,
Kogevinas, Manolis,
Riveiro-Barciela, Mar,
Berger, Marc M. ![ORCID 0000-0001-6771-3193](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-1875-5335](/images/orcid_16x16.gif)
,
Acosta-Herrera, Marialbert ![ORCID 0000-0002-9868-6535](/images/orcid_16x16.gif)
,
D'Angiò, Mariella,
Baldini, Marina,
Cazzaniga, Marina,
Grimsrud, Marit M.,
Cornberg, Markus,
Nöthen, Markus M.,
Marquié, Marta,
Castoldi, Massimo,
Cordioli, Mattia ![ORCID 0000-0002-4872-0520](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-7160-8529](/images/orcid_16x16.gif)
,
Chueca, Natalia,
Montano, Nicola,
Braun, Nicole ![ORCID 0000-0003-1145-0261](/images/orcid_16x16.gif)
,
Ludwig, Nicole ![ORCID 0000-0002-8541-2519](/images/orcid_16x16.gif)
,
Marx, Nikolaus,
Martínez, Nilda,
Cornely, Oliver A. ![ORCID 0000-0001-9599-3137](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-1472-9535](/images/orcid_16x16.gif)
,
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 ![ORCID 0009-0007-4324-2180](/images/orcid_16x16.gif)
,
Brunak, Søren,
Raychaudhuri, Soumya,
Schreiber, Stefan,
Heilmann-Heimbach, Stefanie,
Aliberti, Stefano,
Ripke, Stephan,
Dudman, Susanne ![ORCID 0000-0001-5047-4982](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-2900-4334](/images/orcid_16x16.gif)
,
Andrade, Victor,
Moreno, Victor,
Albrecht, Wolfgang,
Peter, Wolfgang,
Poller, Wolfgang,
Farre, Xavier,
Yi, Xiaoli,
Wang, Xiaomin,
Khodamoradi, Yascha ![ORCID 0000-0001-5972-0967](/images/orcid_16x16.gif)
,
Karadeniz, Zehra,
Latiano, Anna,
Goerg, Siegfried,
Bacher, Petra,
Koehler, Philipp,
Tran, Florian,
Zoller, Heinz,
Schulte, Eva C. ![ORCID 0000-0003-3105-5672](/images/orcid_16x16.gif)
,
Heidecker, Bettina,
Ludwig, Kerstin U. ![ORCID 0000-0002-8541-2519](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-8909-0345](/images/orcid_16x16.gif)
,
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.
2021
Lubnow, Matthias ![ORCID 0000-0002-4402-1810](/images/orcid_16x16.gif)
,
Schmidt, Barbara,
Fleck, Martin,
Salzberger, Bernd,
Müller, Thomas,
Peschel, Georg,
Schneckenpointner, Roland,
Lange, Tobias,
Hitzenbichler, Florian ![ORCID 0000-0003-4374-2787](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-0007-8014](/images/orcid_16x16.gif)
,
Schmid, Stephan,
Weigand, Kilian,
Geismann, Florian ![ORCID 0000-0002-0952-0841](/images/orcid_16x16.gif)
,
Poeck, Hendrik,
Pukrop, Tobias,
Evert, Matthias,
Gessner, Andre,
Burkhardt, Ralph ![ORCID 0000-0003-1924-1202](/images/orcid_16x16.gif)
,
Herr, Wolfgang,
Maier, Lars S. ![ORCID 0000-0001-9915-4429](/images/orcid_16x16.gif)
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.
2020
Brock, Stefanie ![ORCID 0000-0002-4137-512X](/images/orcid_16x16.gif)
,
Vanderhasselt, Tim ![ORCID 0000-0002-0511-0554](/images/orcid_16x16.gif)
,
Vermaning, Sietske,
Keymolen, Kathelijn ![ORCID 0000-0002-7349-641X](/images/orcid_16x16.gif)
,
Régal, Luc ![ORCID 0000-0001-8231-5767](/images/orcid_16x16.gif)
,
Romaniello, Romina ![ORCID 0000-0002-8709-6732](/images/orcid_16x16.gif)
,
Wieczorek, Dagmar ![ORCID 0000-0003-2812-6492](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1219-4781](/images/orcid_16x16.gif)
,
Leventer, Richard J,
Mirzaa, Ghayda,
Dobyns, William B,
Bahi-Buisson, Nadia,
Meuwissen, Marije,
Jansen, Anna C ![ORCID 0000-0002-3835-2824](/images/orcid_16x16.gif)
und
Stouffs, Katrien ![ORCID 0000-0001-8164-5692](/images/orcid_16x16.gif)
(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 ![ORCID 0000-0002-7146-617X](/images/orcid_16x16.gif)
,
Barakat, Tahsin Stefan ![ORCID 0000-0003-1231-1562](/images/orcid_16x16.gif)
,
Wilke, Martina,
Stouffs, Katrien ![ORCID 0000-0001-8164-5692](/images/orcid_16x16.gif)
,
Amrom, Dina,
Aronica, Eleonora,
Bahi-Buisson, Nadia,
Conti, Valerio ![ORCID 0000-0002-8326-6378](/images/orcid_16x16.gif)
,
Fry, Andrew E. ![ORCID 0000-0001-9778-6924](/images/orcid_16x16.gif)
,
Geis, Tobias,
Andres, David Gomez,
Parrini, Elena,
Pogledic, Ivana ![ORCID 0000-0001-5465-3005](/images/orcid_16x16.gif)
,
Said, Edith,
Soler, Doriette,
Valor, Luis M.,
Zaki, Maha S. ![ORCID 0000-0001-7840-0002](/images/orcid_16x16.gif)
,
Mirzaa, Ghayda,
Dobyns, William B.,
Reiner, Orly,
Guerrini, Renzo ![ORCID 0000-0002-7272-7079](/images/orcid_16x16.gif)
,
Pilz, Daniela T.,
Hehr, Ute,
Leventer, Richard J.,
Jansen, Anna C. ![ORCID 0000-0002-3835-2824](/images/orcid_16x16.gif)
,
Mancini, Grazia M. S. und
Di Donato, Nataliya ![ORCID 0000-0001-9439-4677](/images/orcid_16x16.gif)
(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.
2019
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. ![ORCID 0000-0001-6099-7066](/images/orcid_16x16.gif)
,
Kraus, Cornelia,
Krumbiegel, Mandy,
Reis, André ![ORCID 0000-0002-6301-6363](/images/orcid_16x16.gif)
,
Thiel, Christian T. ![ORCID 0000-0003-3817-7277](/images/orcid_16x16.gif)
und
Popp, Bernt ![ORCID 0000-0002-3679-1081](/images/orcid_16x16.gif)
(2019)
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Orphanet Journal of Rare Diseases 14 (1).
Volltext nicht vorhanden.
2018
Elbracht, Miriam,
Kraft, Florian,
Begemann, Matthias,
Holschbach, Petra,
Mull, Michael,
Kabat, Ildiko M.,
Müller, Britta,
Häusler, Martin,
Kurth, Ingo ![ORCID 0000-0002-5642-8378](/images/orcid_16x16.gif)
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 ![ORCID 0000-0002-3720-9655](/images/orcid_16x16.gif)
,
Nawroth, Frank,
Nordhoff, Verena ![ORCID 0000-0001-5963-1366](/images/orcid_16x16.gif)
,
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.
2017
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 ![ORCID 0000-0002-6301-6363](/images/orcid_16x16.gif)
,
Hehr, Ute,
Rittinger, Olaf,
Sperl, Wolfgang,
Haack, Tobias B.,
Wieland, Thomas,
Engels, Hartmut,
Prokisch, Holger ![ORCID 0000-0003-2379-6286](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-7061-2895](/images/orcid_16x16.gif)
(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 ![ORCID 0000-0001-9927-5781](/images/orcid_16x16.gif)
,
Citterio, Andrea ![ORCID 0000-0003-4462-5646](/images/orcid_16x16.gif)
,
Bedeschi, Maria Francesca,
Berardinelli, Angela,
Cusmai, Raffaella,
D’Arrigo, Stefano,
Ferraris, Alessandro,
Hackenberg, Annette,
Kuechler, Alma,
Mancardi, Margherita,
Nuovo, Sara ![ORCID 0000-0003-1359-5122](/images/orcid_16x16.gif)
,
Oehl-Jaschkowitz, Barbara,
Rossi, Andrea ![ORCID 0000-0001-8575-700X](/images/orcid_16x16.gif)
,
Signorini, Sabrina,
Tüttelmann, Frank,
Wahl, Dagmar,
Hehr, Ute,
Boltshauser, Eugen,
Bassi, Maria Teresa,
Valente, Enza Maria ![ORCID 0000-0002-0600-6820](/images/orcid_16x16.gif)
und
Borgatti, Renato ![ORCID 0000-0001-8165-4994](/images/orcid_16x16.gif)
(2017)
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
European Radiology 27 (12), S. 5080-5092.
Volltext nicht vorhanden.
2016
Rath, Matthias,
Spiegler, Stefanie,
Nath, Neetika,
Schwefel, Konrad,
Di Donato, Nataliya,
Gerber, Johannes ![ORCID 0000-0001-7465-8700](/images/orcid_16x16.gif)
,
Korenke, G. Christoph,
Hellenbroich, Yorck,
Hehr, Ute,
Gross, Stephanie,
Sure, Ulrich,
Zoll, Barbara,
Gilberg, Eberhard,
Kaderali, Lars ![ORCID 0000-0002-2359-2294](/images/orcid_16x16.gif)
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 ![ORCID 0000-0003-2975-4888](/images/orcid_16x16.gif)
und
Beetz, Christian ![ORCID 0000-0001-7061-2895](/images/orcid_16x16.gif)
(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.
Larsen, Mirjam,
Kress, Wolfram,
Schoser, Benedikt ![ORCID 0000-0002-2757-8131](/images/orcid_16x16.gif)
,
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. ![ORCID 0000-0002-7780-4707](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-4496-244X](/images/orcid_16x16.gif)
,
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.
Sell, Katharina,
Storch, Katja,
Hahn, Gabriele,
Lee-Kirsch, Min Ae,
Ramantani, Georgia ![ORCID 0000-0002-7931-2327](/images/orcid_16x16.gif)
,
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.
2015
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.
2014
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. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
(2014)
In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC).
NeuroMolecular Medicine 16, S. 551-564.
2012
2007
Diese Liste wurde erzeugt am Wed Jul 17 20:48:56 2024 CEST.