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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma
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RRM2 is an essential and druggable component of the FOXM1 driven replicative stress DNA damage response in neuroblastoma
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A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
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Study of homologous recombination repair in BRCA2 knockout zebrafish embryos
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Hidden genetic variation in Stargardt disease
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Arterial tortuosity syndrome : 37 new families and literature review
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
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GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Second hit landscape in BRCA-associated breast cancer
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CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Myhre syndrome : broadening the phenotypic spectrum
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Congenital contractural arachnodactyly : delineation of clinical criteria