Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores von Schwaninger, Gunda, Forer, Lukas, Ebenbichler, Christoph, Dieplinger, Hans, Kronenberg, Florian, Zschocke, Johannes, Witsch‐Baumgartner, Martina

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

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

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency von Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2 von Fauth, Christine, Steindl, Katharina, Toutain, Annick, Farrell, Sandra, Witsch-Baumgartner, Martina, Karall, Daniela, Joset, Pascal, Böhm, Sebastian, Baumer, Alessandra, Maier, Oliver, Zschocke, Johannes, Weksberg, Rosanna, Marshall, Christian R., Rauch, Anita

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Reply to Lao Q and Merke DP von Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang

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Array genotyping as diagnostic approach in medical genetics von Witsch‐Baumgartner, Martina, Schwaninger, Gunda, Schnaiter, Simon, Kollmann, Franziska, Burkhard, Silja, Gröbner, Rebekka, Mühlegger, Beatrix, Schamschula, Esther, Kirchmeier, Peter, Zschocke, Johannes

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

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Identifying adult hypophosphatasia in the rheumatology unit von Feurstein, Julia, Behanova, Martina, Haschka, Judith, Roetzer, Katharina, Uyanik, Gökhan, Hadzimuratovic, Benjamin, Witsch-Baumgartner, Martina, Schett, Georg, Zwerina, Jochen, Kocijan, Roland

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Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia von Finsterer, Josef, Safoschnik, Georg, Witsch-Baumgartner, Martina

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Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1 -associated chronic mucocutaneous candidiasis family: case report, review of lit... von Fink, Franz-Martin, Höpfl, Reinhard, Witsch-Baumgartner, Martina, Kropshofer, Gabriele, Martin, Sabine, Fink, Valentin, Heeg, Maximilian, Peters, Christina, Zschocke, Johannes, Haas, Oskar A

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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 von KAMSTEEG, Erik-Jan, KRESS, Wolfram, CATALLI, Claudio, HERTZ, Jens M, WITSCH-BAUMGARTNER, Martina, BUCKLEY, Michael F, ENGELEN, Baziel Gm Van, SCHWARTZ, Marianne, SCHEFFER, Hans

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Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome von Frühmesser, Anne, Ph.D, Vogt, Peter H., Ph.D, Zimmer, Jutta, Witsch-Baumgartner, Martina, Ph.D, Fauth, Christine, M.D, Zschocke, Johannes, Ph.D., M.D, Pinggera, Germar-Michael, M.D, Kotzot, Dieter, M.D

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Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome von Fitzky, Barbara U., Witsch-Baumgartner, Martina, Erdel, Martin, Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut, Utermann, Gerd, Moebius, Fabian F.

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Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck von Schwentner, Ilona, Witsch-Baumgartner, Martina, Sprinzl, Georg M., Krugmann, Jens, Tzankov, Alexandar, Jank, Siegfried, Zwierzina, Heinz, Loeffler-Ragg, Judith

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Human variome project country nodes: Documenting genetic information within a country von Patrinos, George P., Smith, Timothy D., Howard, Heather, Al-Mulla, Fahd, Chouchane, Lotfi, Hadjisavvas, Andreas, Hamed, Sherifa A., Li, Xi-Tao, Marafie, Makia, Ramesar, Rajkumar S., Ramos, Feliciano J., de Ravel, Thomy, El-Ruby, Mona O., Shrestha, Tilak Ram, Sobrido, María-Jesús, Tadmouri, Ghazi, Witsch-Baumgartner, Martina, Zilfalil, Bin Alwi, Auerbach, Arleen D., Carpenter, Kevin, Cutting, Garry R., Dung, Vu Chi, Grody, Wayne, Hasler, Julia, Jorde, Lynn, Kaput, Jim, Macek, Milan, Matsubara, Yoichi, Padilla, Carmancita, Robinson, Helen, Rojas-Martinez, Augusto, Taylor, Graham R., Vihinen, Mauno, Weber, Tom, Burn, John, Qi, Ming, Cotton, Richard G. H., Rimoin, David

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Mutations in the human DHCR7 gene von Witsch-Baumgartner, Martina, Löffler, Judith, Utermann, Gerd

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Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient von Loeffler, Judith, Utermann, Gerd, Witsch-Baumgartner, Martina

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Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma von Loeffler-Ragg, Judith, Witsch-Baumgartner, Martina, Tzankov, Alexandar, Hilbe, Wolgang, Schwentner, Ilona, Sprinzl, Georg M., Utermann, Gerd, Zwierzina, Heinz

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Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome von Witsch-Baumgartner, Martina, Lanthaler, Barbara

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