Browsing by Institution "UKU. Institut für Humangenetik"
Now showing items 1-20 of 693
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4-hydroperoxy-cyclophosphamide mediates caspase-independent T-cell apoptosis involving oxidative stress-induced nuclear relocation of mitochondrial apoptogenic factors AIF and EndoG
(2008)Wissenschaftlicher Artikel
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4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood
(2017)Wissenschaftlicher Artikel
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A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis
(2017)Wissenschaftlicher Artikel
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
(2014)Wissenschaftlicher Artikel
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A CELL-CULTURE STUDY ON MELANOCYTES FROM PATIENTS WITH NEUROFIBROMATOSIS-1
(1989)Wissenschaftlicher Artikel
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A CLONAL TRANSLOCATION T(10-21) IN AN OPTIC GLIOMA OF A PATIENT WITH NEUROFIBROMATOSIS TYPE-1 (NF1)
(1995)Wissenschaftlicher Artikel
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A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
(2014)Wissenschaftlicher Artikel
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A comprehensive flow-cytometry-based immunophenotypic characterization of Burkitt-like lymphoma with 11q aberration
(2018)Wissenschaftlicher Artikel
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A DELETION IN THE 5'-REGION OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
(1994)Wissenschaftlicher Artikel
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A Diagnostic Approach to the Identification of Burkitt-like Lymphoma With 11q Aberration in Aggressive B-Cell Lymphomas
(2021)Wissenschaftlicher Artikel
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A Gene Conversion Hotspot in the Human Growth Hormone (GH1) Gene Promoter
(2009)Wissenschaftlicher Artikel
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A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data
(2020)Wissenschaftlicher Artikel
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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly
(2012)Wissenschaftlicher Artikel
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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
(2015)Wissenschaftlicher Artikel
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A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer
(2015)Wissenschaftlicher Artikel
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A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (< 60 years) and is associated with reduced DNA repair capacity
(2018)Wissenschaftlicher Artikel
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A mathematical approach predicting the number of events in different tumors
(2008)Wissenschaftlicher Artikel
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A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease
(2013)Wissenschaftlicher Artikel
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