Search Results - Janecke, Andreas R

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  1. 1
    Refinement of the GINGF3 locus for hereditary gingival fibromatosis

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

    Published 2009
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  2. 2
    Inherited ichthyoses/generalized Mendelian disorders of cornification

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

    Published 2013
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  3. 3
    Case of Syndromic Tufting Enteropathy Harbors SPINT2 Mutation seen in Congenital Sodium Diarrhea

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

    Published 2010
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  4. 4
    Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

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

    Published 2021
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  5. 5
    Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation

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

    Published 2020
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  6. 6
    Ferroportin disease: A systematic meta-analysis of clinical and molecular findings()

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

    Published 2010
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  7. 7
    Corrigendum to “Ferroportin disease: A systematic meta-analysis of clinical and molecular findings” J. Hepatol. 2010 Nov;53(5):941–949

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

    Published 2011
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  8. 8
    Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

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

    Published 2021
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  9. 9
    Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

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

    Published 2020
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  10. 10
    Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely

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

    Published 2018
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  11. 11
    Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

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

    Published 2020
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  12. 12
    Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

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

    Published 2021
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  13. 13
    A Large Family with a Gain-of-Function Mutation of Complement C3 Predisposing to Atypical Hemolytic Uremic Syndrome, Microhematuria, Hypertension and Chronic Renal Failure

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

    Published 2009
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  14. 14
    AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

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

    Published 2020
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  15. 15
    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation by 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

    Published 2017
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  16. 16
    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 by 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

    Published 2008
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  17. 17
    MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

    MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation by 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

    Published 2012
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  18. 18
    Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

    Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome by 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.

    Published 2009
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  19. 19
    Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

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

    Published 2013
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  20. 20
    SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients()

    SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients() by 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

    Published 2011
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