Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management

por Walleczek, Nina-Katharina, Förster, Kristina, Seyr, Martina, Kadrnoska, Nadja, Kolar, Jennifer, Wasinger-Brandweiner, Verena, Vodopiutz, Julia
Publicado 2021

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

por Siegert, Sandy, Mindler, Gabriel T., Brücke, Christof, Kranzl, Andreas, Patsch, Janina, Ritter, Markus, Janecke, Andreas R., Vodopiutz, Julia
Publicado 2021

The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug‐resistant epilepsy in childhood

por Breu, Markus, Häfele, Chiara, Trimmel‐Schwahofer, Petra, Schmidt, Wolfgang M., Laconne, Franco, Vodopiutz, Julia, Male, Christoph, Dressler, Anastasia
Publicado 2021

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

por Vodopiutz, Julia, Steurer, Lisa-Maria, Haufler, Florentina, Laccone, Franco, Garczarczyk-Asim, Dorota, Hilkenmeier, Matthias, Steinbauer, Philipp, Janecke, Andreas R.
Publicado 2023

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

por Waich, Stephanie, Janecke, Andreas R., Parson, Walther, Greber‐Platzer, Susanne, Müller, Thomas, Huber, Lukas A., Valovka, Taras, Vodopiutz, Julia
Publicado 2020

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

por Vodopiutz, Julia, Zoller, Heinz, Fenwick, Aimée L., Arnhold, Richard, Schmid, Max, Prayer, Daniela, Müller, Thomas, Repa, Andreas, Pollak, Arnold, Aufricht, Christoph, Wilkie, Andrew O.M., Janecke, Andreas R.
Publicado 2013

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

por Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia
Publicado 2019

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

por Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S
Publicado 2016

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

por Panzer, Marlene, Viveiros, André, Schaefer, Benedikt, Baumgartner, Nadja, Seppi, Klaus, Djamshidian, Atbin, Todorov, Theodor, Griffiths, William J. H., Schott, Eckart, Schuelke, Markus, Eurich, Dennis, Stättermayer, Albert Friedrich, Bomford, Adrian, Foskett, Pierre, Vodopiutz, Julia, Stauber, Rudolf, Pertler, Elke, Morell, Bernhard, Tilg, Herbert, Müller, Thomas, Kiechl, Stefan, Jimenez‐Heredia, Raul, Weiss, Karl Heinz, Hahn, Si Houn, Janecke, Andreas, Ferenci, Peter, Zoller, Heinz
Publicado 2022

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

por Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.
Publicado 2016

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

por Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad
Publicado 2023