Browsing by Institution "UKU. Institut für Humangenetik"
Now showing items 1-20 of 492
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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 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 new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
(2013)Wissenschaftlicher Artikel
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A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
(2019)Wissenschaftlicher Artikel
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A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome
(2018)Wissenschaftlicher Artikel
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A novel lymphoma-associated macrophage interaction signature (LAMIS) provides robust risk prognostication in diffuse large B-cell lymphoma clinical trial cohorts of the DSHNHL
(2020)Wissenschaftlicher Artikel
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A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
(2013)Wissenschaftlicher Artikel
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A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
(2019)Wissenschaftlicher Artikel
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A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
(2013)Wissenschaftlicher Artikel