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- Kehrer-Sawatzki, Hildegard
- Kluwe, Lan 14
- Cooper, David N 13
- Mautner, Viktor Felix 11
- Farschtschi, Said 6
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22 Einträge gefunden
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Clinical characterization of children and adolescents with NF1 microdeletions
- Kehrer-Sawatzki, Hildegard
- Kluwe, Lan
- Salamon, Johannes
- Well, Lennart
- Farschtschi, Said
- Rosenbaum, Thorsten
- Mautner, Victor-Felix
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Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis
- Farschtschi, Said
- Mautner, Victor-Felix
- Pham, Mirko
- Nguyen, Rosa
- Kehrer-Sawatzki, Hildegard
- Hutter, Sonja
- Friedrich, Reinhard E
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Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination
- Bengesser, Kathrin
- Vogt, Julia
- Mussotter, Tanja
- Mautner, Victor-Felix
- Messiaen, Ludwine
- Cooper, David N
- Kehrer-Sawatzki, Hildegard
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Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants
- Hutter, Sonja
- Piro, Rosario M
- Reuss, David E
- Hovestadt, Volker
- Sahm, Felix
- Farschtschi, Said
- Kehrer-Sawatzki, Hildegard
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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
- Mußotter, Tanja
- Kluwe, Lan
- Högel, Josef
- Nguyen, Rosa
- Cooper, David N
- Mautner, Viktor Felix
- Kehrer-Sawatzki, Hildegard
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Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.
- Roehl, Angelika C
- Mussotter, Tanja
- Cooper, David N
- Kluwe, Lan
- Wimmer, Katharina
- Högel, Josef
- Zetzmann, Marion
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Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
- Kluwe, Lan
- Nguyen, Rosa
- Vogt, Julia
- Bengesser, Kathrin
- Mussotter, Tanja
- Friedrich, Reinhard
- Jett, Kimberly
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Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
- Kehrer-Sawatzki, Hildegard
- Vogt, Julia
- Mußotter, Tanja
- Kluwe, Lan
- Cooper, David N
- Mautner, Viktor Felix
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Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.
- Vogt, Julia
- Nguyen, Rosa
- Kluwe, Lan
- Schuhmann, Martin
- Roehl, Angelika C
- Mußotter, Tanja
- Cooper, David N
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Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
- Roehl, Angelika C
- Cooper, David N
- Kluwe, Lan
- Helbrich, Andreas
- Wimmer, Katharina
- Högel, Josef
- Mautner, Viktor Felix
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A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
- Bengesser, Kathrin
- Cooper, David N
- Steinmann, Katharina
- Kluwe, Lan
- Chuzhanova, Nadia A
- Wimmer, Katharina
- Tatagiba, Marcos
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