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TITLE: Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children  Full Text
AUTHORS: Cabral, RM; Liu, L; Hogan, C; Dopping Hepenstal, PJC; Winik, BC; Asial, RA; Dobson, R; Mein, CA; Baselaga, PA; Mellerio, JE; Nanda, A; Boente, MDC; Kelsell, DP; McGrath, JA; South, AP;
PUBLISHED: 2010, SOURCE: Journal of Investigative Dermatology, VOLUME: 130, ISSUE: 6
INDEXED IN: Scopus CrossRef
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TITLE: Identification and characterization of DSPIa, a novel isoform of human desmoplakin  Full Text
AUTHORS: Cabral, RM; Wan, H; Cole, CL; Abrams, DJ; Kelsell, DP; South, AP;
PUBLISHED: 2010, SOURCE: Cell and Tissue Research, VOLUME: 341, ISSUE: 1
INDEXED IN: Scopus CrossRef
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TITLE: A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss  Full Text
AUTHORS: Matos, TD ; Caria, H ; Simoes Teixeira, H; Aasen, T; Dias, O; Andrea, M ; Kelsell, DP; Fialho, G ;
PUBLISHED: 2008, SOURCE: HEARING RESEARCH, VOLUME: 240, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef
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TITLE: A novel hearing loss-related mutation occurring in the GJB2 basal promoter
AUTHORS: Matos, TD ; Caria, H ; Simoes Teixeira, H; Aasen, T; Nickel, R; Jagger, DJ; O'Neill, A; Kelsell, DP; Fialho, G ;
PUBLISHED: 2007, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 44, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef