Arama Sonuçları - Zschocke, Johannes

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  1. 1
    Clinical utility gene card for: Phenylketonuria

    Clinical utility gene card for: Phenylketonuria Yazar: Zschocke, Johannes, Haverkamp, Thomas, Møller, Lisbeth Birk

    Baskı/Yayın Bilgisi 2012
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  2. 2
    Oral manifestations of Ehlers‐Danlos syndromes

    Oral manifestations of Ehlers‐Danlos syndromes Yazar: Lepperdinger, Ulrike, Zschocke, Johannes, Kapferer‐Seebacher, Ines

    Baskı/Yayın Bilgisi 2021
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  3. 3
    The genetic counseling profession in Austria: Stakeholders’ perspectives

    The genetic counseling profession in Austria: Stakeholders’ perspectives Yazar: Schwaninger, Gunda, Benjamin, Caroline, Rudnik‐Schöneborn, Sabine, Zschocke, Johannes

    Baskı/Yayın Bilgisi 2021
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  4. 4
    An International Classification of Inherited Metabolic Disorders (ICIMD)

    An International Classification of Inherited Metabolic Disorders (ICIMD) Yazar: Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes

    Baskı/Yayın Bilgisi 2021
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  5. 5
    Interleukin 1 blockade with canacinumab for hyperimmunoglobulin D and periodic fever syndrome

    Interleukin 1 blockade with canacinumab for hyperimmunoglobulin D and periodic fever syndrome Yazar: Brunner, Juergen, Binder, Elisabeth, Karall, Daniela, Zschocke, Johannes, Fauth, Christine

    Baskı/Yayın Bilgisi 2014
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  6. 6
    Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

    Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review Yazar: KAPFERER-SEEBACHER, Ines, SCHNABL, Dagmar, ZSCHOCKE, Johannes, POPE, F. Michael

    Baskı/Yayın Bilgisi 2020
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  7. 7
    Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

    Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations Yazar: Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina

    Baskı/Yayın Bilgisi 2013
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  8. 8
    Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

    Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) Yazar: Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

    Baskı/Yayın Bilgisi 2017
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  9. 9
    A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

    A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye Yazar: Pölsler, Laura, Schatz, Ulrich A., Simma, Burkhard, Zschocke, Johannes, Rudnik‐Schöneborn, Sabine

    Baskı/Yayın Bilgisi 2020
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  10. 10
    High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series

    High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series Yazar: Rinner, Alexander, Zschocke, Johannes, Schossig, Anna, Gröbner, Rebekka, Strobl, Heinrich, Kapferer‐Seebacher, Ines

    Baskı/Yayın Bilgisi 2018
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  11. 11
    PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

    PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1 Yazar: Vogt, Julia, Wernstedt, Annekatrin, Ripperger, Tim, Pabst, Brigitte, Zschocke, Johannes, Kratz, Christian, Wimmer, Katharina

    Baskı/Yayın Bilgisi 2016
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  12. 12
    Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis

    Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis Yazar: Watschinger, Katrin, Keller, Markus A, Golderer, Georg, Coassin, Stefan, Zschocke, Johannes, Werner, Ernst R

    Baskı/Yayın Bilgisi 2018
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  13. 13
    Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

    Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations Yazar: Tavasoli, Ali Reza, Parvaneh, Nima, Ashrafi, Mahmoud Reza, Rezaei, Zahra, Zschocke, Johannes, Rostami, Parastoo

    Baskı/Yayın Bilgisi 2018
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  14. 14
    Genotype and phenotype variability in Sjögren‐Larsson syndrome

    Genotype and phenotype variability in Sjögren‐Larsson syndrome Yazar: Weustenfeld, Maximilian, Eidelpes, Reiner, Schmuth, Matthias, Rizzo, William B., Zschocke, Johannes, Keller, Markus A.

    Baskı/Yayın Bilgisi 2018
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  15. 15
    An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

    An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria Yazar: Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang

    Baskı/Yayın Bilgisi 2005
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  16. 16
    Inherited ichthyoses/generalized Mendelian disorders of cornification

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

    Baskı/Yayın Bilgisi 2013
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  17. 17
    Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

    Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome Yazar: Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines

    Baskı/Yayın Bilgisi 2021
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  18. 18
    Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

    Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene Yazar: Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga

    Baskı/Yayın Bilgisi 2011
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  19. 19
    SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

    SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data Yazar: Fischer, Maria, Snajder, Rene, Pabinger, Stephan, Dander, Andreas, Schossig, Anna, Zschocke, Johannes, Trajanoski, Zlatko, Stocker, Gernot

    Baskı/Yayın Bilgisi 2012
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  20. 20
    Recurrent Spontaneous Miscarriage: a Comparison of International Guidelines

    Recurrent Spontaneous Miscarriage: a Comparison of International Guidelines Yazar: Vomstein, Kilian, Aulitzky, Anna, Strobel, Laura, Bohlmann, Michael, Feil, Katharina, Rudnik-Schöneborn, Sabine, Zschocke, Johannes, Toth, Bettina

    Baskı/Yayın Bilgisi 2021
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