Vademecum metabolicum : manual de pediatria metabólica /

Autor Zschocke, Johannes., Hoffmann, Georg F.
Vydáno 2007

JIMD Reports, case and research reports, 2012/5

Autor Zschocke, Johannes, Gibson, K. Michael
Vydáno 2013

Clinical utility gene card for: Phenylketonuria

Autor Zschocke, Johannes, Haverkamp, Thomas, Møller, Lisbeth Birk
Vydáno 2012

The genetic counseling profession in Austria: Stakeholders’ perspectives

Autor Schwaninger, Gunda, Benjamin, Caroline, Rudnik‐Schöneborn, Sabine, Zschocke, Johannes
Vydáno v J Genet Couns (2021)

JIMD Reports, case and research reports, 2012/4

Autor Zschocke, Johannes, Gibson, K. Michael, Society for the Study of Inborn Errors of Metabolism
Vydáno c201

Interleukin 1 blockade with canacinumab for hyperimmunoglobulin D and periodic fever syndrome

Autor Brunner, Juergen, Binder, Elisabeth, Karall, Daniela, Zschocke, Johannes, Fauth, Christine
Vydáno 2014

Jimd reports volume 10 /

Autor Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena
Vydáno c201

Jimd reports case and research reports, 2012/6 /

Autor Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena
Vydáno c201

Jimd reports volume 11 /

Autor Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena
Vydáno c201

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

Autor Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina
Vydáno 2013

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

Autor Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena
Vydáno v JIMD Rep (2017)

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

Autor Pölsler, Laura, Schatz, Ulrich A., Simma, Burkhard, Zschocke, Johannes, Rudnik‐Schöneborn, Sabine
Vydáno v Am J Med Genet A (2020)

High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series

Autor Rinner, Alexander, Zschocke, Johannes, Schossig, Anna, Gröbner, Rebekka, Strobl, Heinrich, Kapferer‐Seebacher, Ines
Vydáno v Clin Oral Implants Res (2018)

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

Autor Vogt, Julia, Wernstedt, Annekatrin, Ripperger, Tim, Pabst, Brigitte, Zschocke, Johannes, Kratz, Christian, Wimmer, Katharina
Vydáno v Eur J Hum Genet (2016)

Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis

Autor Watschinger, Katrin, Keller, Markus A, Golderer, Georg, Coassin, Stefan, Zschocke, Johannes, Werner, Ernst R
Vydáno v J Infect Dis (2018)

Genotype and phenotype variability in Sjögren‐Larsson syndrome

Autor Weustenfeld, Maximilian, Eidelpes, Reiner, Schmuth, Matthias, Rizzo, William B., Zschocke, Johannes, Keller, Markus A.
Vydáno v Hum Mutat (2018)

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

Autor Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang
Vydáno 2005

Inherited ichthyoses/generalized Mendelian disorders of cornification

Autor Schmuth, Matthias, Martinz, Verena, Janecke, Andreas R, Fauth, Christine, Schossig, Anna, Zschocke, Johannes, Gruber, Robert
Vydáno 2013

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Autor Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines
Vydáno v Biomolecules (2021)

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Autor Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga
Vydáno 2011