檢索結果 - Zschocke, Johannes

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  1. 1
    Clinical utility gene card for: Phenylketonuria

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

    出版 2012
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  2. 2
    Oral manifestations of Ehlers‐Danlos syndromes

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

    出版 2021
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  3. 3
    The genetic counseling profession in Austria: Stakeholders’ perspectives

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

    出版 2021
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  4. 4
    An International Classification of Inherited Metabolic Disorders (ICIMD)

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

    出版 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 由 Brunner, Juergen, Binder, Elisabeth, Karall, Daniela, Zschocke, Johannes, Fauth, Christine

    出版 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 由 KAPFERER-SEEBACHER, Ines, SCHNABL, Dagmar, ZSCHOCKE, Johannes, POPE, F. Michael

    出版 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 由 Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina

    出版 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) 由 Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

    出版 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 由 Pölsler, Laura, Schatz, Ulrich A., Simma, Burkhard, Zschocke, Johannes, Rudnik‐Schöneborn, Sabine

    出版 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 由 Rinner, Alexander, Zschocke, Johannes, Schossig, Anna, Gröbner, Rebekka, Strobl, Heinrich, Kapferer‐Seebacher, Ines

    出版 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 由 Vogt, Julia, Wernstedt, Annekatrin, Ripperger, Tim, Pabst, Brigitte, Zschocke, Johannes, Kratz, Christian, Wimmer, Katharina

    出版 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 由 Watschinger, Katrin, Keller, Markus A, Golderer, Georg, Coassin, Stefan, Zschocke, Johannes, Werner, Ernst R

    出版 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 由 Tavasoli, Ali Reza, Parvaneh, Nima, Ashrafi, Mahmoud Reza, Rezaei, Zahra, Zschocke, Johannes, Rostami, Parastoo

    出版 2018
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  14. 14
    Genotype and phenotype variability in Sjögren‐Larsson syndrome

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

    出版 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 由 Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang

    出版 2005
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  16. 16
    Inherited ichthyoses/generalized Mendelian disorders of cornification

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

    出版 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 由 Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines

    出版 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 由 Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga

    出版 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 由 Fischer, Maria, Snajder, Rene, Pabinger, Stephan, Dander, Andreas, Schossig, Anna, Zschocke, Johannes, Trajanoski, Zlatko, Stocker, Gernot

    出版 2012
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  20. 20
    Recurrent Spontaneous Miscarriage: a Comparison of International Guidelines

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

    出版 2021
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