Bilaketaren emaitzak - Zschocke, Johannes

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa