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Showing 4 out of a total of 4 results for collection: Dermatology - Faculty Publications.
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A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
Farooq M.
;
Kurban M.
;
Fujimoto A.
;
Fujikawa H.
;
Abbas O.
;
Nemer G.
;
Saliba J.
;
Sleiman R.
;
Tofaili M.
;
Kibbi A.-G.
;
Ito M.
;
Shimomura Y.
(
HOBOKEN
,
2013
)
A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia
Farooq M.
;
Kurban M.
;
Abbas O.
;
Obeidat O.
;
Fujikawa H.
;
Kibbi A.-G.
;
Fujimoto A.
;
Shimomura Y.
(
HOBOKEN
,
2012
)
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome
Farooq M.
;
Kurban M.
;
Abbas O.
;
Kibbi A.-G.
;
Fujimoto A.
;
Fujikawa H.
;
Shimomura Y.
(
MONTROUGE
,
2012
)
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63
Fujimoto A.
;
Kurban M.
;
Nakamura M.
;
Farooq M.
;
Fujikawa H.
;
Kibbi A.-G.
;
Ito M.
;
Dahdah M.
;
Matta M.
;
Diab H.
;
Shimomura Y.
(
CLARE
,
2013
)
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Author
Farooq M. (4)
Fujikawa H. (4)
Fujimoto A. (4)
Kibbi A.-G. (4)
Kurban M. (4)
Shimomura Y. (4)
Abbas O. (3)
Ito M. (2)
Dahdah M. (1)
Diab H. (1)
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Subject
EXPRESSION (4)
human (4)
Humans (4)
||| (4)
article (3)
Dermatology (3)
Female (3)
gene sequence (3)
Male (3)
priority journal (3)
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Date Issued
2012 (2)
2013 (2)
Has File(s)
No (4)