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The Journal of Investigative Dermatology
|
January 27, 2007
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads
Masashi Akiyama, Kaori Sakai, Ken Arita, et al.
Archives of Dermatology
|
June 17, 2009
Familial primary localized cutaneous amyloidosis in Brazil
Thais H Sakuma, Gunter Hans-Filho, Ken Arita, et al.
Experimental Dermatology
|
October 20, 2010
A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing
Ken Natsuga, Wataru Nishie, Satoru Shinkuma, et al.
The Journal of Investigative Dermatology
|
September 16, 2006
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1
Ken Arita, Witold K Jacyk, Vesarat Wessagowit, et al.
The Journal of Investigative Dermatology
|
April 27, 2007
Five new homozygous mutations in the KIND1 gene in Kindler syndrome
Joey E Lai-Cheong, Lu Liu, Gomathy Sethuraman, et al.
The Journal of Clinical Investigation
|
July 12, 2005
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Masashi Akiyama, Yoriko Sugiyama-Nakagiri, Kaori Sakai, et al.
Human Mutation
|
March 10, 2010
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis
Satoru Shinkuma, Masashi Akiyama, Asuka Inoue, et al.
The Journal of Investigative Dermatology
|
May 18, 2007
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia
Ken Natsuga, Masashi Akiyama, Naoko Kato, et al.
American Journal of Human Genetics
|
January 9, 2008
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis
Ken Arita, Andrew P South, Günter Hans-Filho, et al.
The Journal of Investigative Dermatology
|
May 15, 2007
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression
Celine Pourreyron, Georgie Cox, Xin Mao, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
The Journal of Investigative Dermatology
|
January 27, 2007
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads
Masashi Akiyama, Kaori Sakai, Ken Arita, et al.
Archives of Dermatology
|
June 17, 2009
Familial primary localized cutaneous amyloidosis in Brazil
Thais H Sakuma, Gunter Hans-Filho, Ken Arita, et al.
Experimental Dermatology
|
October 20, 2010
A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing
Ken Natsuga, Wataru Nishie, Satoru Shinkuma, et al.
The Journal of Investigative Dermatology
|
September 16, 2006
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1
Ken Arita, Witold K Jacyk, Vesarat Wessagowit, et al.
The Journal of Investigative Dermatology
|
April 27, 2007
Five new homozygous mutations in the KIND1 gene in Kindler syndrome
Joey E Lai-Cheong, Lu Liu, Gomathy Sethuraman, et al.
The Journal of Clinical Investigation
|
July 12, 2005
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Masashi Akiyama, Yoriko Sugiyama-Nakagiri, Kaori Sakai, et al.
Human Mutation
|
March 10, 2010
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis
Satoru Shinkuma, Masashi Akiyama, Asuka Inoue, et al.
The Journal of Investigative Dermatology
|
May 18, 2007
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia
Ken Natsuga, Masashi Akiyama, Naoko Kato, et al.
American Journal of Human Genetics
|
January 9, 2008
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis
Ken Arita, Andrew P South, Günter Hans-Filho, et al.
The Journal of Investigative Dermatology
|
May 15, 2007
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression
Celine Pourreyron, Georgie Cox, Xin Mao, et al.
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of 5