Browsing by Institution "UKU. Institut für Humangenetik"

Now showing items 1-20 of 693

4-hydroperoxy-cyclophosphamide mediates caspase-independent T-cell apoptosis involving oxidative stress-induced nuclear relocation of mitochondrial apoptogenic factors AIF and EndoG

Strauss, G. et al. (2008)

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4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood

Gaspar, Harald et al. (2017)

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A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis

Smirin-Yosef, Pola et al. (2017)

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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

Akimoto, Chizuru et al. (2014)

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A CELL-CULTURE STUDY ON MELANOCYTES FROM PATIENTS WITH NEUROFIBROMATOSIS-1

Kaufmann, Dieter et al. (1989)

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A CLONAL TRANSLOCATION T(10-21) IN AN OPTIC GLIOMA OF A PATIENT WITH NEUROFIBROMATOSIS TYPE-1 (NF1)

Kehrer, Hildegard et al. (1995)

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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

Aulitzky, Anna et al. (2014)

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A comprehensive flow-cytometry-based immunophenotypic characterization of Burkitt-like lymphoma with 11q aberration

Rymkiewicz, Grzegorz et al. (2018)

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A DELETION IN THE 5'-REGION OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE

Hoffmeyer, Sven et al. (1994)

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A Diagnostic Approach to the Identification of Burkitt-like Lymphoma With 11q Aberration in Aggressive B-Cell Lymphomas

Horn, Heike et al. (2021)

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A Gene Conversion Hotspot in the Human Growth Hormone (GH1) Gene Promoter

Wolf, Andreas et al. (2009)

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A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data

Huynh-Le, Minh-Phuong et al. (2020)

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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

Borck, Guntram et al. (2011)

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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

Kakar, Naseebullah et al. (2012)

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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Stange, Katja et al. (2015)

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A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer

Stegeman, Shane et al. (2015)

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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

Surowy, Harald et al. (2018)

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A mathematical approach predicting the number of events in different tumors

Rieker, Ralf J. et al. (2008)

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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

Al Olama, Ali Amin et al. (2013)

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A modular transcriptome map of mature B cell lymphomas

Loeffler-Wirth, Henry et al. (2019)

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