検索結果 - Zschocke, Johannes

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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