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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape
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- Journal Article
- A1
- open access
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3
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- Journal Article
- A1
- open access
Cardiovascular pathology in males and females with 45,X/46,XY mosaicism
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Insulin sensitivity modulates the growth response during the first year of high-dose growth hormone treatment in short prepubertal children born small for gestational age
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NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis