Klinische Chemie - Laborbefunde kritisch beurteilen
Published: Pharmazeutische Zeitung, 159 (44), 28-35 (2014)
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Archived publications
older then 10 yearsCALR mutations in cMPN. Experience with 185 patients of the Single Center Register (SCR) Lüdenscheid.
Published: Oncol Res Treat 2014;37(suppl 5):314331.
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease
Published: Neurosci Lett 566:115-119, 2014. Im Internet bei PubMed NCBI.
Cyclic thrombocytosis in a patient with PV resolved by ruxolitinib treatment
Published: HAEMATOLOGICA / 19th congress Mailand 2014, ABSTRACT BOOK, abstract PB1749
Complementation of non-tumorigenicity of HPV18-positive cervical carcinoma cells involves differential mRNA expression of cellular genes including potential tumor suppressor genes on chromosome 11q13
Published: Cancer Genet. 2013 Jul-Aug;206(7-8):279-92. doi: 10.1016/j.cancergen.2013.06.002. Epub 2013 Sep 14.
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34
Published: Clin Genet. 2013 Jun 13. doi: 10.1111/cge.12199
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.
Published: BMC Urology 2013, 13:3 doi:10.1186/1471-2490-13-3 Der Artikel ist online abrufbar unter biomedcentral.
Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.
Published: EMBO Mol Med. 2012 Apr 19. doi: 10.1002/emmm.201200239. Artikel online verfügbar unter EMBO. Molecular Medicine.
Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis.
Published: Human Mutation 2012 Jul;33(7):1045-50. doi: 10.1002/humu.22082. Epub 2012 Apr 16.
Neonatal Screening: Identification of Children with 11-Hydroxylase Deficiency by Second-Tier Testing.
Published: Horm Res Paediatr 2012;77:195199
Archived publications
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