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

por Finsterer, Josef, Safoschnik, Georg, Witsch-Baumgartner, Martina
Publicado 2017

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

por Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang
Publicado 2020

Reply to Lao Q and Merke DP

por Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang
Publicado 2021

Examining ethical leadership in health care organizations and its impacts on employee work attitudes: an empirical analysis from Austria

por Franczukowska, Arleta Anna, Krczal, Eva, Knapp, Christine, Baumgartner, Martina
Publicado 2016

Characterization of Staphylococcus Species Isolated from Bovine Quarter Milk Samples

por Wald, Regina, Hess, Claudia, Urbantke, Verena, Wittek, Thomas, Baumgartner, Martina
Publicado 2019

Tracing Mastitis Pathogens—Epidemiological Investigations of a Pseudomonas aeruginosa Mastitis Outbreak in an Austrian Dairy Herd

por Schauer, Bernhard, Wald, Regina, Urbantke, Verena, Loncaric, Igor, Baumgartner, Martina
Publicado 2021

An Outbreak of Subclinical Mastitis in a Dairy Herd Caused by a Novel Streptococcus canis Sequence Type (ST55)

por Eibl, Cassandra, Baumgartner, Martina, Urbantke, Verena, Sigmund, Michael, Lichtmannsperger, Katharina, Wittek, Thomas, Spergser, Joachim
Publicado 2021

Array genotyping as diagnostic approach in medical genetics

por Witsch‐Baumgartner, Martina, Schwaninger, Gunda, Schnaiter, Simon, Kollmann, Franziska, Burkhard, Silja, Gröbner, Rebekka, Mühlegger, Beatrix, Schamschula, Esther, Kirchmeier, Peter, Zschocke, Johannes
Publicado 2022

Identifying adult hypophosphatasia in the rheumatology unit

por Feurstein, Julia, Behanova, Martina, Haschka, Judith, Roetzer, Katharina, Uyanik, Gökhan, Hadzimuratovic, Benjamin, Witsch-Baumgartner, Martina, Schett, Georg, Zwerina, Jochen, Kocijan, Roland
Publicado 2022

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 2012

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

por Schoner, Katharina, Witsch‐Baumgartner, Martina, Behunova, Jana, Petrovic, Robert, Bald, Rainer, Kircher, Susanne G., Ramaswamy, Annette, Kluge, Britta, Meyer‐Wittkopf, Matthias, Schmitz, Ralf, Fritz, Barbara, Zschocke, Johannes, Laccone, Franco, Rehder, Helga
Publicado 2019

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia‐variant

por Locher, Maurus, Jukic, Emina, Bohn, Jan‐Paul, Untergasser, Gerold, Steurer, Michael, Cramer, Christian Andreas, Schwendinger, Simon, Vogi, Verena, Verdorfer, Irmgard, Witsch‐Baumgartner, Martina, Nachbaur, David, Gunsilius, Eberhard, Wolf, Dominik, Zschocke, Johannes, Steiner, Normann
Publicado 2020

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma

por Locher, Maurus, Jukic, Emina, Vogi, Verena, Keller, Markus A., Kröll, Teresa, Schwendinger, Simon, Oberhuber, Klaus, Verdorfer, Irmgard, Mühlegger, Beatrix E., Witsch‐Baumgartner, Martina, Nachbaur, David, Willenbacher, Wolfgang, Gunsilius, Eberhard, Wolf, Dominik, Zschocke, Johannes, Steiner, Normann
Publicado 2022

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

por Høyer, Helle, Hilmarsen, Hilde T, Sunder-Plassmann, Raute, Braathen, Geir J, Andersen, Peter M, Beetz, Christian, Hacker, Sandra, Holla, Øystein L, Kurth, Ingo, Löscher, Wolfgang N, Reiter, Simone B C F, Rudnik-Schöneborn, Sabine, Strand, Linda, Windhager, Reinhard, Witsch-Baumgartner, Martina, Senderek, Jan, Auer-Grumbach, Michaela
Publicado 2022

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

por Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans-Christoph, Weis, Denisa
Publicado 2022

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado 2018