Search Results - "Novak, Wolfgang"

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor by Poyer, Fiona, Jimenez Heredia, Raúl, Novak, Wolfgang, Zeitlhofer, Petra, Nebral, Karin, Dworzak, Michael N., Haas, Oskar A., Boztug, Kaan, Kager, Leo

“…We report the case of a male Pakistani patient with a pathogenic homozygous loss of function variant in the non-homologous end-joining factor 1 ( NHEJ1 ) gene…”
Get full text

PITFALLS IN THE DIAGNOSTICS OF SAA/RCC: CAN WHOLE EXOME SEQUENCING LEAD US THE WAY? by Novak, Wolfgang, Frohne, Alexandra, Karlhuber, Susanne, Jimenez-Heredia, Raúl, Kager, Leo, Dworzak, Michael, Boztug, Kaan

Get full text

A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes by Kager, Leo, Jimenez‐Heredia, Raúl, Zeitlhofer, Petra, Novak, Wolfgang, Eder, Sebastian K., Segarra‐Roca, Anna, Frohne, Alexandra, Nebral, Karin, Haimel, Matthias, Geyeregger, René, Roetzer‐Londgin, Katharina, Haas, Oskar A., Boztug, Kaan

“…Next-generation sequencing (NGS) has helped elucidate pathogenic variants underlying HS, the complexity of inheritance modes, and genotype–phenotype…”
Get full text

Occurrence of autoimmune pancreatitis after chronic immune thrombocytopenia in a Caucasian adolescent by Kogler, Hubert, Novak, Wolfgang, Vécsei, Andreas, Zachbauer, Christina, Huber, Wolf-Dietrich, Lakatos, Karoly, Woeran, Katharina, Stift, Judith, Boztug, Kaan, Kager, Leo

“…Autoimmune pancreatitis is a rare, distinct and increasingly recognized form of chronic inflammatory pancreatic disease secondary to an underlying autoimmune…”
Get full text

Dominant inherited β‐thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB by Novak, Wolfgang, Sunder‐Plassmann, Raute, Berner, Jakob, Köhrer, Stefan, Zeitlhofer, Petra, Haas, Oskar A., Riedl, Julia, Kager, Leo, Sillaber, Christian

Get full text

Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3 by Novak, Wolfgang, Berner, Jakob, Svaton, Michael, Jimenez‐Heredia, Raul, Segarra‐Roca, Anna, Frohne, Alexandra, Guiliani, Sarah, Rouhani, David, Eder, Sebastian K., Rottal, Arno, Trapin, Doris, Scheuchenstuhl, Anja, Pickl, Winfried F., Simonitsch‐Klupp, Ingrid, Kager, Leo, Boztug, Kaan

“…Summary Increasing evidence suggests multilineage cytopenias (also known as Evans syndrome) may be caused by inborn errors of immunity (IEI) with immune…”
Get full text

Importance of genetic clarification in cytopenia syndromes (childhood myelodysplastic syndrome forms) by Novak, Wolfgang, Kroiss, Doris, Karlhuber, Susanne, Frohne, Alexandra, Segarra-Roca, Anna, Simonitsch-Klupp, Ingrid, Boztug, Heidrun, Engstler, Gernot, Kager, Leo, Boztug, Kaan, Dworzak, Michael

“…Summary Childhood myelodysplastic syndrome (cMDS) is a rare clonal hematopoietic disorder characterized by peripheral cytopenia, with refractory cytopenia of…”
Get full text

Therapie depressiver Störungen mit selektiven Serotonin-Rückaufnahme-Inhibitoren (SSRI) by Novak, Wolfgang, Erfurth, Andreas

“…Zusammenfassung Antidepressiva sind eine inhomogene Gruppe von Substanzen, unter denen sich die selektiven Serotonin-Rückaufnahme-Inhibitoren (SSRI) als…”
Get full text

Diagnostik und Therapie depressiver Störungen: 2. Teil by Novak, Wolfgang, Sachs, Gabriele, Erfurth, Andreas

“…Zusammenfassung In der Therapie depressiver Störungen finden verschiedene Strategien Anwendung. Die Behandlung wird dabei in drei Phasen unterteilt: die Akut-,…”
Get full text

Diagnostik und Therapie depressiver Störungen: 1. Teil by Novak, Wolfgang, Sachs, Gabriele, Erfurth, Andreas

“…Zusammenfassung Depressive Störungen stellen eine der größten Herausforderungen in der Psychiatrie dar. Depressive Störungen werden durch genetische Faktoren…”
Get full text

Buchbesprechung by Barolin, Gerhard S., Kurz, Herbert, Novak, Wolfgang

Get full text

Buchbesprechung by Barolin, Gerhard S., Kurz, Herbert, Novak, Wolfgang

Get full text

Fatal neonatal Salmonella enteritidis sepsis by Pumberger, W, Novak, W

“…A case history of a fatal neonatal infection caused by Salmonella enteritidis group D is reported. The baby deteriorated rapidly at 24 hours after birth with…”
Get full text

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor by Poyer, Fiona, Jimenez Heredia, Raúl, Novak, Wolfgang, Zeitlhofer, Petra, Nebral, Karin, Dworzak, Michael N, Haas, Oskar A, Boztug, Kaan, Kager, Leo

Get full text