Rezultati - Donald Wurm

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  1. 1
    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies od Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Izdano 2016
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  2. 2
    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies od Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Izdano 2016
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  3. 3
    Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

    Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease od Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Buescher, Mathias Burgmaier, İsmail Dursun, Ali Düzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, İbrahim Gökçe, Dieter Haffner, Nakysa Hooman, Bernd Höppe, Augustina Jankauskiené, Günter Klaus, Jens König, Mieczysław Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgı Mır, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomáš Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Małgorzata Stańczyk, Yılmaz Tabel, Katarzyna Taranta‐Janusz, Sara Testa, Julia Thumfart, Rezan Topaloĝlu, Lutz T. Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yılmaz, Katarzyna Zachwieja, Ilona Zagożdżon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max C. Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Bjoern Buchholz, Rainer Buescher, Karsten Häffner, Martin Pöhl, Oliver Groß, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja M. Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus R. Benz, Silke Schmidt, C. J. Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotiοs Papachristou, Francesco Emma

    Izdano 2018
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  4. 4
    Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

    Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants od Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomáš Seeman, Lale Sever, Przemysław Sikora, Maria Szczepańska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz T. Weber, Elke Wühl, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max C. Liebau, Loai Eid, Klaus Arbeiter, Nathalie Godefroid, Jacques Lombet, Aurélie De Mul, Markus Feldkoetter, Jakub Zieg, Franziska Grundmann, Matthias Galiano, Bjoern Buchholz, Anja Buescher, Karsten Häffner, Oliver Groß, Ludwig Patzer, Jun Oh, Dieter Haffner, Wanja M. Bernhardt, Susanne Schaefer, Simone Wygoda, Jan Halbritter, Ute Derichs, Günter Klaus, Felix Lechner, Sabine Ponsel, Jens König, Hagen Staude, Donald Wurm, Martin Bald, Michaela Geßner, Neveen A. Soliman, Gema Ariceta, Juan David González-Rodríguez, Francisco de la Cerda Ojeda, Jérôme Harambat, Denis Morin, Claire Dossier, Guillaume Dorval, Rukshana Shroff, Stella Stabouli, Nakysa Hooman, Francesca Mencarelli, William Morello, Germana Longo, Francesco Emma, Augustina Jankauskiené, Katarzyna Taranta‐Janusz, Ilona Zagożdżon, Katarzyna Zachwieja, Małgorzata Stańczyk, Beata Bieniaś, Mieczysław Litwin, Aurelia Morawiec‐Knysak, Alberto Caldas Afonso, Oliver Dunand, Andreea Liana Răchişan, Gordana Miloševski‐Lomić, Svetlana Papizh, Rina Rus, Houweyda Jilani, Bahriye Atmış, Ali Düzova, Alper Soylu, Cengiz Candan, Salim Çalışkan, Alev Yılmaz

    Izdano 2021
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