Bilaketaren emaitzak - Janecke, Andreas R

Refinement of the GINGF3 locus for hereditary gingival fibromatosis nork Pampel, Michael, Maier, Sandra, Kreczy, Alfons, Weirich-Schwaiger, Helga, Utermann, Gerd, Janecke, Andreas R.

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Inherited ichthyoses/generalized Mendelian disorders of cornification nork Schmuth, Matthias, Martinz, Verena, Janecke, Andreas R, Fauth, Christine, Schossig, Anna, Zschocke, Johannes, Gruber, Robert

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Case of Syndromic Tufting Enteropathy Harbors SPINT2 Mutation seen in Congenital Sodium Diarrhea nork Sivagnanam, Mamata, Janecke, Andreas R., Müller, Thomas, Heinz-Erian, Peter, Taylor, Sharon, Bird, Lynne M.

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Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy nork Haberlandt, Edda, Valovka, Taras, Janjic, Tanja, Müller, Thomas, Blatsios, Georgios, Karall, Daniela, Janecke, Andreas R.

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Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation nork Vogel, Georg-Friedrich, Maurer, Elisabeth, Entenmann, Andreas, Straub, Simon, Knisely, A. S., Janecke, Andreas R., Müller, Thomas

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Ferroportin disease: A systematic meta-analysis of clinical and molecular findings() nork Mayr, Roman, Janecke, Andreas R., Schranz, Melanie, Griffiths, William J.H., Vogel, Wolfgang, Pietrangelo, Antonello, Zoller, Heinz

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Corrigendum to “Ferroportin disease: A systematic meta-analysis of clinical and molecular findings” J. Hepatol. 2010 Nov;53(5):941–949 nork Mayr, Roman, Janecke, Andreas R., Schranz, Melanie, Griffiths, William J.H., Vogel, Wolfgang, Pietrangelo, Antonello, Zoller, Heinz

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Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family nork Siegert, Sandy, Mindler, Gabriel T., Brücke, Christof, Kranzl, Andreas, Patsch, Janina, Ritter, Markus, Janecke, Andreas R., Vodopiutz, Julia

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Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria nork Waich, Stephanie, Janecke, Andreas R., Parson, Walther, Greber‐Platzer, Susanne, Müller, Thomas, Huber, Lukas A., Valovka, Taras, Vodopiutz, Julia

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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely nork Niederwanger, Christian, Lechner, Silvia, König, Lisa, Janecke, Andreas R., Pototschnig, Claus, Häussler, Beatrice, Scholl-Bürgi, Sabine, Müller, Thomas, Heinz-Erian, Peter

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Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series nork Baumann, Matthias, Beaver, Erin M., Palomares‐Bralo, María, Santos‐Simarro, Fernando, Holzer, Peter, Povysil, Gundula, Müller, Thomas, Valovka, Taras, Janecke, Andreas R.

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Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families nork Ayyıldız Civan, Hasret, Leitner, Coleen, Östreicher, Iris, Schneider, Anna-Maria, Cremer, Malte, Mayr, Johannes A., Rossi, Rainer, Müller, Thomas, Janecke, Andreas R.

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A Large Family with a Gain-of-Function Mutation of Complement C3 Predisposing to Atypical Hemolytic Uremic Syndrome, Microhematuria, Hypertension and Chronic Renal Failure nork Lhotta, Karl, Janecke, Andreas R., Scheiring, Johanna, Petzlberger, Barbara, Giner, Thomas, Fally, Verena, Würzner, Reinhard, Zimmerhackl, Lothar B., Mayer, Gert, Fremeaux-Bacchi, Veronique

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AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect nork Klee, Katharina M. C., Janecke, Andreas R., Civan, Hasret A., Rosipal, Štefan, Heinz-Erian, Peter, Huber, Lukas A., Müller, Thomas, Vogel, Georg F.

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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation nork Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, Andreas R

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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 nork Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat

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MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation nork Finkenstedt, Armin, Schranz, Melanie, Bösch, Sylvia, Karall, Daniela, Bürgi, Sabine Scholl, Ensinger, Christian, Drach, Mathias, Mayr, Johannes A., Janecke, Andreas R, Vogel, Wolfgang, Nachbaur, David, Zoller, Heinz

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Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome nork Dündar, Munis, Müller, Thomas, Zhang, Qi, Pan, Jing, Steinmann, Beat, Vodopiutz, Julia, Gruber, Robert, Sonoda, Tohru, Krabichler, Birgit, Utermann, Gerd, Baenziger, Jacques U., Zhang, Lijuan, Janecke, Andreas R.

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

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SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients() nork Papić, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M., Bittner, Reginald E., Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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