Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome

Por Witsch-Baumgartner, Martina, Lanthaler, Barbara
Publicado no Eur J Hum Genet (2015)

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

Por Witsch-Baumgartner, Martina, Touitou, Isabelle
Publicado no Eur J Hum Genet (2015)

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

Por Witsch-Baumgartner, Martina, Sawyer, Hilary, Haas, Dorothea
Publicado em 2013

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia

Por Finsterer, Josef, Safoschnik, Georg, Witsch-Baumgartner, Martina
Publicado no SAGE Open Med Case Rep (2017)

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

Por Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina
Publicado em 2013

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Por Fitzky, Barbara U., Witsch-Baumgartner, Martina, Erdel, Martin, Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut, Utermann, Gerd, Moebius, Fabian F.
Publicado em 1998

Role of Vpma phase variation in Mycoplasma agalactiae pathogenesis

Por Chopra-Dewasthaly, Rohini, Baumgartner, Martina, Gamper, Erika, Innerebner, Carmen, Zimmermann, Martina, Schilcher, Franz, Tichy, Alexander, Winter, Petra, Jechlinger, Wolfgang, Rosengarten, Renate, Spergser, Joachim
Publicado no FEMS Immunol Med Microbiol (2012)

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Por Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans
Publicado em 2012