Rezultati pretrage - Witsch-Baumgartner, Martina

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes) od Witsch-Baumgartner, Martina, Touitou, Isabelle

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS] od Witsch-Baumgartner, Martina, Sawyer, Hilary, Haas, Dorothea

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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... od 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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst