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- 2020
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Mark
Genomic and transcriptomic features of dermatofibrosarcoma protuberans : Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development
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- Contribution to journal › Article
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Mark
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
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- Contribution to journal › Article
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Mark
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
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- Contribution to journal › Article
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Mark
An integrative phenotype–genotype approach using phenotypic characteristics from the UAE national diabetes study identifies HSD17B12 as a candidate gene for obesity and type 2 diabetes
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- Contribution to journal › Article
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Mark
13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking
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- Contribution to journal › Article
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Mark
Hydroxysteroid 17-β dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease
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- Contribution to journal › Article
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Mark
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
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- Contribution to journal › Article
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Mark
Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD
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- Contribution to journal › Scientific review
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Mark
Dyslexia Candidate Gene and Ciliary Gene Expression Dynamics During Human Neuronal Differentiation
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- Contribution to journal › Article
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Mark
p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids
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- Contribution to journal › Article