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Showing 7 out of a total of 7 results for collection: Dermatology - Faculty Publications.
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Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: Expression studies of SLC29A3 (hENT3) in human skin
Farooq M.
;
Moustafa R.M.
;
Fujimoto A.
;
Fujikawa H.
;
Abbas O.
;
Kibbi A.G.
;
Kurban M.
;
Shimomura Y.
(
BASEL
,
2012
)
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
)
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family
Kurban M.
;
Shimomura Y.
;
Bahhady R.
;
Ghosn S.
;
Kibbi A.-G.
;
Christiano A.M.
(
MALDEN
,
2010
)
Acrodermatitis continua of hallopeau is a clinical phenotype of DITRA: Evidence that it is a variant of pustular psoriasis
Abbas O.
;
Itani S.
;
Ghosn S.
;
Kibbi A.G.
;
Fidawi G.
;
Farooq M.
;
Shimomura Y.
;
Kurban M.
(
BASEL
,
2013
)
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
)
Genetic analysis of epidermolysis bullosa: Identification of mutations in LAMB3 and COL7A1 genes in three families
Farooq M.
;
Kurban M.
;
Iguchi R.
;
Abbas O.
;
Fujimoto A.
;
Fujikawa H.
;
Bourji L.
;
Sleiman R.
;
Itani S.
;
Succariah F.
;
Kibbi A.G.
;
Shimomura Y.
(
CLARE
,
2013
)
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Author
Kurban M. (7)
Shimomura Y. (7)
Farooq M. (6)
Abbas O. (5)
Fujikawa H. (5)
Fujimoto A. (5)
Kibbi A.-G. (4)
Kibbi A.G. (3)
Ghosn S. (2)
Itani S. (2)
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Subject
Dermatology (7)
human (7)
Humans (7)
Male (7)
Female (6)
priority journal (6)
case report (5)
Pedigree (5)
||| (5)
Adult (4)
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Date Issued
2012 (3)
2013 (3)
2010 (1)
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No (7)