Hakutulokset - Zschocke, Johannes

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti