Kết quả tìm kiếm - Ute Hehr

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  1. 1
    Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

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

    Được phát hành 2010
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  2. 2
    WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

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

    Được phát hành 2009
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    Artigo
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  3. 3
    The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

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

    Được phát hành 2019
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  4. 4
    Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells

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

    Được phát hành 2015
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    Artigo
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  5. 5
    Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

    Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia Bằng Rebecca Schüle, Nina Schlipf, Matthis Synofzik, Stephan Klebe, Sven Klimpe, Ute Hehr, Beate Winner, Tobias Lindig, A Dotzer, Olaf Rieß, Jürgen Winkler, Lüdger Schöls, Peter Bauer

    Được phát hành 2009
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  6. 6
    An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

    An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons Bằng Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiß, Ioannis Lingos, Stephanie Reischl, H Meixner, Sonja Ploetz, Michaela Farrell, Ute Hehr, Zacharias Kohl, Beate Winner, Jürgen Winkler

    Được phát hành 2022
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    Artigo
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  7. 7
    Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

    Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI Bằng Philipp Dammann, Karsten H. Wrede, Yuan Zhu, Toshinori Matsushige, Stefan Maderwald, Lale Umutlu, Harald H. Quick, Ute Hehr, Matthias Rath, Mark E. Ladd, Ute Felbor, Ulrich Sure

    Được phát hành 2016
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    Artigo
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  8. 8
    In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC)

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

    Được phát hành 2014
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  9. 9
    Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

    Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum Bằng Arif B. Ekici, D. Hilfinger, M. Jatzwauk, Christian T. Thiel, Dirk Wenzel, Ivo C. Lorenz, Eugen Boltshauser, TO Goecke, Gundula Staatz, Deborah Morris‐Rosendahl, Heinrich Sticht, Ute Hehr, André Reis, Anita Rauch

    Được phát hành 2010
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    Artigo
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  10. 10
    The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism

    The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism Bằng Erich Roessler, Felicitas Lacbawan, Christ��le Dubourg, Aimée Paulussen, J. Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia V. Ouspenskaia, Sherri J. Bale, Sylvie Odent, V�ronique David, Maximilian Muenke

    Được phát hành 2009
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    Artigo
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  11. 11
    Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

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

    Được phát hành 2010
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    Artigo
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  12. 12
    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Bằng Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz

    Được phát hành 2013
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  13. 13
    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand... Bằng Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke

    Được phát hành 2009
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  14. 14
    Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

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

    Được phát hành 2015
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    Artigo
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  15. 15
    Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

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

    Được phát hành 2013
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  16. 16
    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

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

    Được phát hành 2016
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  17. 17
    47 patients with FLNA associated periventricular nodular heterotopia

    47 patients with FLNA associated periventricular nodular heterotopia Bằng Max Lange, Burkhard S. Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, A. Ferbert, Andreas Hahn, Barbara Oehl‐Jaschkowitz, Luitgard Graul‐Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers‐Renelt, Ana Beleza‐Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Jürgen Winkler, Gerhard Schuierer, Ute Hehr

    Được phát hành 2015
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  18. 18
    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations Bằng Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, William Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G. Brunner, Hermann‐Josef Lüdecke, Dagmar Wieczorek

    Được phát hành 2013
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    Artigo
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  19. 19
    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syn... Bằng Renata Lúcia Leite Ferreira de Lima, Sarah A. Hoper, Michella Ghassibe‐Sabbagh, Margaret E. Cooper, Nicholas K. Rorick, Shinji Kondo, Lori Katz, Mary L. Marazita, John G. Compton, Sherri J. Bale, Ute Hehr, Michael J. Dixon, Sandra Daack‐Hirsch, Odile Boute, Bénédicte Bayet, Nicole Revençu, Christine Verellen‐Dumoulin, Miikka Vikkula, Antônio Richieri‐Costa, Danilo Moretti‐Ferreira, Jeffrey C. Murray, Brian C. Schutte

    Được phát hành 2009
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  20. 20
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development Bằng Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    Được phát hành 2020
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