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Pröpper, Christiane [Author] ; Hehr, Ute [Degree supervisor]

LIS1-assoziierte klassische Lissenzephalie: Eine retrospektive, multizentrische Studie zum epileptischen Phänotyp und Ansprechen auf Antikonvulsiva

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Regensburg: Universitätsbibliothek Regensburg, 2018
Döringer, Judith [Author] ; Hehr, Ute [Degree supervisor]; Winkler, Jürgen [Degree supervisor]

Klinische Charakterisierung der hereditären spastischen Paraplegie mit mentaler Retardierung und/oder dünnem Corpus callosum

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Regensburg: Universitätsbibliothek Regensburg, 2012
Dittrich, Ralf [Author]; Kliesch, Sabine [Author]; Balcerek, Magdalena [Author]; Beckmann, Matthias Wilhelm [Author]; Behringer, Karolin [Author]; Denzer, Christian [Author]; Diemer, Thorsten [Author]; Dorn, Almut [Author]; Fehm, Tanja [Author]; Germeyer, Ariane [Author]; Geue, Kristina [Author]; Ghadjar, Pirus [Author]; Goeckenjan, Maren [Author]; Guth, Dagmar [Author]; Hauffa, Berthold [Author]; Hehr, Ute [Author]; Hetzer, Franc [Author]; Hoffmann, Wilfried [Author]; Jantke, Andreas [Author]; Kentenich, Heribert [Author]; Köhn, Frank-Michael [Author]; Meißner, Julia [Author]; Micke, Oliver [Author]; Nawroth, Frank [Author]; [...]

Fertility preservation for watients 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

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Full access (via DOI)

http://www.thieme-connect.de/DOI/DOI?10.1055/a-0611-5549

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2018

Published in: Geburtshilfe und Frauenheilkunde ; 78(2018), 6, Seite 567-584
Hehr, Ute

Mikrozephalie

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Walter de Gruyter GmbH, 2015

Published in: Medizinische Genetik
Chaoui, Rabih; Hehr, Ute

Pränataldiagnostik bei fetaler Mikrozephalie

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Walter de Gruyter GmbH, 2015

Published in: Medizinische Genetik
Hehr, Ute; Muenke, Maximilian

Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones

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Elsevier BV, 1999

Published in: Molecular Genetics and Metabolism
Hehr, Andreas; Bals-Pratsch, Monika; Seifert, Bernd; Hehr, Ute

Präimplantationsdiagnostik und Polkörperdiagnostik / The current state of preimplantation genetic diagnosis and polar body diagnosis

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Walter de Gruyter GmbH, 2007

Published in: LaboratoriumsMedizin
Herbst, Saskia M.; Schuierer, Gerhard; Hehr, Ute

Strukturelle Hirnfehlbildungen mit Mikrozephalie

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Walter de Gruyter GmbH, 2015

Published in: Medizinische Genetik
Hehr, Andreas; Paulmann, Bernd; Gassner, Claudia; Krauß-Dreher, Susann; Seifert, Bernd; Hehr, Ute

Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg

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Walter de Gruyter GmbH, 2019

Published in: Medizinische Genetik
Hehr, Andreas; Paulmann, Bernd; Eichhammer, Lisa; Gassner, Claudia; Seifert, Bernd; Hehr, Ute

Präimplantationsdiagnostik – methodische Aspekte

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Walter de Gruyter GmbH, 2016

Published in: Medizinische Genetik
Hehr, Ute; Gross, Claudia; Diebold, Uta; Wahl, Dagmar; Beudt, Ulrike; Heidemann, Peter; Hehr, Andreas; Mueller, Dietmar

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

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Springer Science and Business Media LLC, 2004

Published in: European Journal of Pediatrics
Busche, Andreas; Hehr, Ute; Sieg, Peter; Gillessen‐Kaesbach, Gabriele

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

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Wiley, 2016

Published in: American Journal of Medical Genetics Part A
Bernstein, Jonathan A.; Bernstein, Daniel; Hehr, Ute; Hudgins, Louanne

Familial cardiac valvulopathy due to filamin A mutation

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Wiley, 2011

Published in: American Journal of Medical Genetics Part A
Berger, Bernhard; Ganswindt, Ute; Bamberg, Michael; Hehr, Thomas

External beam radiotherapy as postoperative treatment of diffuse pigmented villonodular synovitis

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Elsevier BV, 2007

Published in: International Journal of Radiation Oncology*Biology*Physics
Kurz, Bernadett; Koschitzki, Kevin-Thomas; Hehr, Ute; Germer, Ute; Schreml, Julia; Langhammer, Florian; Schreml, Stephan

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10

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Elsevier BV, 2023

Published in: JAAD Case Reports
Hinreiner, Sophie; Wieczorek, Dagmar; Mueller, Dietmar; Roedl, Tanja; Thiel, Gundula; Grasshoff, Ute; Chaoui, Rabih; Hehr, Ute

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

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Wiley, 2018

Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Hehr, Andreas; Frister, Helmut; Fondel, Sabine; Krauß, Susann; Zuehlke, Christine; Hellenbroich, Yorck; Hehr, Ute; Gillessen-Kaesbach, Gabriele

Präimplantationsdiagnostik

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Walter de Gruyter GmbH, 2014

Published in: Medizinische Genetik
Gökdere, Sare; Schneider, Holm; Hehr, Ute; Willen, Laure; Schneider, Pascal; Maier-Wohlfart, Sigrun

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

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Frontiers Media SA, 2022

Published in: Frontiers in Genetics
Jahic, Amir; Hinreiner, Sophie; Emberger, Werner; Hehr, Ute; Zuchner, Stephan; Beetz, Christian

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

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Hindawi Limited, 2017

Published in: Human Mutation
Karrasch, Thomas; Herbst, Saskia M.; Hehr, Ute; Schmid, Andreas; Schäffler, Andreas

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

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Bioscientifica, 2016

Published in: European Thyroid Journal

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