Resultats de la cerca - Angela Huebner

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  1. 1
    Triple A syndrome: genotype–phenotype assessment

    Triple A syndrome: genotype–phenotype assessment per Igor Prpić, Angela Huebner, Mladen Peršić, Katrin Handschug, Martina Pavletić

    Publicat 2003
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  2. 2
    Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis

    Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis per Ramona Jühlen, Jan Idkowiak, Angela E. Taylor, Barbara Kind, Wiebke Arlt, Angela Huebner, Katrin Koehler

    Publicat 2015
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  3. 3
    Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

    Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene per Katrin Handschug, Silke Sperling, Sungjoo Kim Yoon, Steffen Hennig, Adrian J. L. Clark, Angela Huebner

    Publicat 2001
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  4. 4
    The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation

    The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation per Sara Carvalhal, Susana A. Ribeiro, Miguel Arocena, Taciana Kasciukovic, Achim Temme, Katrin Koehler, Angela Huebner, Eric R. Griffis

    Publicat 2015
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  5. 5
    Relative Contributions of Inferior Petrosal Sinus Sampling and Pituitary Imaging in the Investigation of Children and Adolescents with ACTH-Dependent Cushing’s Syndrome

    Relative Contributions of Inferior Petrosal Sinus Sampling and Pituitary Imaging in the Investigation of Children and Adolescents with ACTH-Dependent Cushing’s Syndrome per Anne Lienhardt, Ashley Grossman, Janet E. Dacie, Jane Evanson, Angela Huebner, Farhad Afshar, P.N. Plowman, G. M. Besser, Martin O. Savage

    Publicat 2001
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  6. 6
    Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism

    Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism per Helen L. Storr, Barbara Kind, David A. Parfitt, J. Paul Chapple, Michael G. Lorenz, Katrin Koehler, Angela Huebner, Adrian J. L. Clark

    Publicat 2009
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  7. 7
    Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

    Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK per Constanze Gallenmüller, Wolfgang Müller‐Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva, Astrid Blaschek, Maja von der Hagen, Angela Huebner, Juliane S. Müller, Hanns Lochmüller, Angela Abicht

    Publicat 2013
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  8. 8
    Diabetes and Neurodegeneration in Wolfram Syndrome

    Diabetes and Neurodegeneration in Wolfram Syndrome per Julia Rohayem, Christian Ehlers, B. Wiedemann, Reinhard W. Holl, Konrad Oexle, Olga Kordonouri, Giuseppina Salzano, Thomas Meißner, Walter Burger, Edith Schober, Angela Huebner, Min Ae Lee‐Kirsch

    Publicat 2011
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  9. 9
    Tall stature in familial glucocorticoid deficiency

    Tall stature in familial glucocorticoid deficiency per Lucila Leico Kagohara Elias, Angela Huebner, Lou Metherell, Jose A. Canas, Gary L. Warne, Maria Luisa Manca Bitti, Stefano Cianfarani, Peter Clayton, Martin O. Savage, Adrian Clark

    Publicat 2000
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  10. 10
    A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

    A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy per Matthias Vorgerd, Peter F. M. van der Ven, Vera Bruchertseifer, Thomas Löwe, Rudolf A. Kley, Rolf Schröder, Hanns Lochmüller, Mirko Himmel, Katrin Koehler, Dieter O. Fürst, Angela Huebner

    Publicat 2005
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  11. 11
    Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

    Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P per Maggie C. Walter, Peter Reilich, Angela Huebner, Dirk Fischer, Rolf Schröder, Matthias Vorgerd, Wolfram Kreß, C. Born, Benedikt Schoser, Klaus‐Henning Krause, Ursula Klutzny, Stefanie Bulst, J.R. Frey, Hanns Lochmüller

    Publicat 2007
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  12. 12
    Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

    Molecular characterisation of congenital myasthenic syndromes in Southern Brazil per Violeta Mihaylova, Rosana Hermínia Scola, Bianca Lamas Gervini, Paulo José Lorenzoni, Claudia Kay, Lineu César Werneck, Rolf Stucka, Velina Guergueltcheva, Maja von der Hagen, Angela Huebner, Angela Abicht, Juliane S. Müller, Hanns Lochmüller

    Publicat 2010
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  13. 13
    Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

    Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency per Lou Metherell, Danielle Naville, G Halaby, Martine Bégeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy Tomlinson, Nils Krone, Lin Lin, Michaël Racine, Daniel M. Berney, John C. Achermann, Wiebke Arlt, Adrian Clark

    Publicat 2009
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  14. 14
    Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

    Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas per Christina Pamporaki, Barbora Hamplová, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri Timmers, Martin Faßnacht, Barbara Klink, Maya Lodish, Constantine A. Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard Sinnott, Andrzej Januszewicz, Karel Pacák, Graeme Eisenhofer

    Publicat 2017
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  15. 15
    A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

    A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy per Debbie Hicks, Anna Sárközy, Nuria Muelas, Katrin Koehler, Angela Huebner, Gavin Hudson, Patrick F. Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geoff Bailey, James Miller, Aleksandar Radunović, PJ Hughes, R.G. Roberts, Sabine Krause, Maggie C. Walter, S. Laval, Volker Straub, Hanns Lochmüller, Kate Bushby

    Publicat 2010
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  16. 16
    FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

    FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients per Maggie C. Walter, Jens A. Petersen, Rolf Stucka, Dirk Fischer, Rolf Schröder, Matthias Vorgerd, Anja Schroers, Herbert Schreiber, C. Oliver Hanemann, U Knirsch, Angela Rosenbohm, Angela Huebner, Nina Barišić, Rita Horváth, Sámuel Komoly, Peter Reilich, Wolfgang Müller‐Felber, D Pongratz, Juliane S. Müller, Ennes A. Auerswald, Hanns Lochmüller

    Publicat 2004
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  17. 17
    Distinct muscle imaging patterns in myofibrillar myopathies

    Distinct muscle imaging patterns in myofibrillar myopathies per Dirk Fischer, Rudolf A. Kley, Katharina Strach, Charlotte Meyer, Torsten Sommer, K. Eger, A. Rolfs, W. W. Meyer, Adolf Pou, J. Lara, Christoph M. Heyer, Annemarie Grossmann, Angela Huebner, Wolfram Kreß, Jens Reimann, Rolf Schröder, B. Eymard, Michel Fardeau, Bjarne Udd, Lev G. Goldfarb, Matthias Vorgerd, Montse Olivé

    Publicat 2008
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  18. 18
    Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

    Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients per Rudolf A. Kley, Yorck Hellenbroich, Peter F. M. van der Ven, Dieter O. Fürst, Angela Huebner, Vera Bruchertseifer, SA Peters, Christoph M. Heyer, Janbernd Kirschner, Rolf Schröder, Dirk Fischer, Katja Müller, K. Tolksdorf, K. Eger, Alfried Germing, Turgut Brodherr, C. Reum, Maggie C. Walter, Hanns Lochmüller, U.‐P. Ketelsen, Matthias Vorgerd

    Publicat 2007
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  19. 19
    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood per Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meırleır, Vassili Valayannopoulos, Wolfgang Müller‐Felber, Venkateswaran Ramesh, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabeth Thompson, Martin Smitka, Angela Huebner, Marie Husson, Rita Horváth, Patrick F. Chinnery, Frédéric M. Vaz, Arnold Münnich, Orly Elpeleg, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay

    Publicat 2010
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  20. 20
    Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child

    Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child per Maria Candida Barisson Villares Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, Paula Waki Lopes da Rosa, Rodrigo Bomeny de Paulo, Maria Heloisa Massola Schimizu, Antônio Carlos Seguro, Marisa Passarelli, Katrin Koehler, Angela Huebner, Madson Q. Almeida, Ana Cláudia Latronico, Ivo J.P. Arnhold, Berenice B. Mendonça

    Publicat 2017
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