Research output per year
Research output per year
Search results
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2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder
Genomics England Research Consortium, 22 Jun 2022, In: Human Molecular Genetics. 31, 12, p. 1970-1978 9 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Citations (Scopus) -
2014
Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa
Shipman, A. R., Liu, L., Lai-Cheong, J. E., McGrath, J. A. & Heagerty, A., Sept 2014, In: JAMA dermatology. 150, 9, p. 1025-7 3 p.Research output: Contribution to journal › Article › peer-review
8 Citations (Scopus)