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Elena G. Bochukova
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researcher
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Works
10
Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.
scientific article published in August 2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesity
scientific article published on 17 June 2013
Large, rare chromosomal deletions associated with severe early-onset obesity
scientific article
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis
scientific article
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
scientific journal article
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
scientific article
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance
scientific article published on 17 January 2019
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis
scientific article published on 15 September 2009
Clinical dividends from the molecular genetic diagnosis of craniosynostosis
scientific article
Genomic studies of gene expression: regulation of the Wilson disease gene
scientific article published on June 2003
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Website
blizard.qmul.ac.uk
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Researcher
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