134 results on '"Hofmann, Winfried"'
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2. Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
3. Hypoxia Attenuates Pressure Overload‐Induced Heart Failure
4. Development and validation of multivariate predictors of primary endocrine resistance to tamoxifen and aromatase inhibitors in luminal breast cancer reveal drug-specific differences
5. Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia
6. P322: DECIPHERING THE UNDERLYING MOLECULAR COMPLEXITY OF THE IKZF1PLUS SIGNATURE
7. A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients
8. Systematic genetic analysis of pediatric patients with autoinflammatory diseases
9. Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions
10. Vitamin A preserves cardiac energetic gene expression in a murine model of diet-induced obesity
11. CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis
12. Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing
13. Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
14. CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis.
15. Genetics in inborn errors of immunity: pediatric autoinflammatory phenotypes and the underlying genetic causes in 125 families
16. Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing
17. Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing.
18. De novo missense variants in theRAP1Bgene identified in two patients with syndromic thrombocytopenia
19. Frequency and prognostic impact ofPAX5p.P80Rin pediatric acute lymphoblastic leukemia patients treated on anAIEOP‐BFMacute lymphoblastic leukemia protocol
20. Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair
21. From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing
22. Additional file 1: of Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
23. Additional file 4: of Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
24. Additional file 2: of Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
25. The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants
26. Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion
27. Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP‐BFM acute lymphoblastic leukemia protocol.
28. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
29. From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing.
30. MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies
31. GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families
32. Telomere Shortening, TP53 Mutations and Deletions in Chronic Lymphocytic Leukemia Result in Increased Chromosomal Instability and Breakpoint Clustering in Heterochromatic Regions
33. Comprehensive MALDI-TOF Biotyping of the Non-Redundant Harvard Pseudomonas aeruginosa PA14 Transposon Insertion Mutant Library
34. Single Cell Whole Exome Sequencing in NPM1/Flt3 Positive Pediatric Acute Myeloid Leukemia
35. Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype
36. Numerical Aberrations Involving The X Chromosome As a New Recurrent Aberration In Patients With Chronic Lymphocytic Leukemia
37. BCR-ABL Cooperates With a “Telomere-Associated Secretory Phenotype” (TASP) To Facilitate Malignant Proliferation Of Hematopoietic Stem Cells
38. Untersuchungen zur Isolierung von Regulator-Genen des floralen Meristem-Identitäts-Gens FLORICAULA aus Antirrhinum majus
39. Histone methyltransferaseSuv39h1deficiency preventsMyc-induced chromosomal instability in murine myeloid leukemias
40. Routes of Clonal Evolution Into Complex Karyotypes in Myelodysplastic Syndrome Patients with Del(5q)
41. Telomere Shortening and Chromosomal Instability in Chronic Lymphocytic Leukemia
42. Short Telomeres Before Lenalidomide Treatment Predict Leukemic Progression In Patients with Myelodysplastic Syndrome and Deletion 5q
43. Clonal heterogeneity in childhood myelodysplastic syndromes-Challenge for the detection of chromosomal imbalances by array-CGH
44. Telomere shortening and chromosomal instability in myelodysplastic syndromes
45. Analysis of Array-CGH Data Using the R and Bioconductor Software Suite
46. Rinderkrankheiten
47. Epidermal control of floral organ identity by class B homeotic genes inAntirrhinumandArabidopsis
48. Histone methyltransferase Suv39h1 deficiency prevents Myc-induced chromosomal instability in murine myeloid leukemias.
49. Telomere shortening and chromosomal instability in myelodysplastic syndromes.
50. Aufgaben der Produktionsleitebene in der chemischen Industrie.
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