Results 121 to 130 of about 6,541 (219)

E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome. [PDF]

Int Med Case Rep J
Chen B, Xu X, Zhou F.
europepmc   +1 more source

First molecular screening of deafness in the Altai Republic population [PDF]

, 2005
Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres, Anne-Françoise Roux   +5 more
core   +1 more source

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report. [PDF]

Front Med (Lausanne)
Lin C, Chen H, Lai S, Huang S, Guo Z, Xie L, Zheng W, Lu J, Zeng Z, Wan C, Li L.   +10 more
europepmc   +1 more source

Type IV pityriasis rubra pilaris treated with ixekizumab. [PDF]

An Bras Dermatol
Ferreirinha A, João A, Brito Caldeira M.   +2 more
europepmc   +1 more source

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in <i>FAM83G</i>. [PDF]

Front Med (Lausanne)
Mora-Gómez M, Feito M, Gallego-Zazo N, Maseda-Pedrero R, Sobral-Costas TG, Miranda-Alcaraz L, Vásquez-Amell V, Rodríguez-Canó M, Parra A, Cazalla M, Arias P, Silván C, Jiménez-Estrada JA, Ruiz-Pérez VL, Nevado J, Lapunzina P, Tenorio-Castano J.   +16 more
europepmc   +1 more source

Striate palmoplantar keratoderma [PDF]

, 2020
openaire   +1 more source

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

Patch-Type Granuloma Annulare [PDF]

, 2009
Afonso, A, Cardoso, J, Carvalho, R, Coelho, R, Rodrigues, A   +4 more
core   +1 more source

A Case of Palmoplantar Keratodermas Complicated by Pseudoainhum and Literature Review. [PDF]

Clin Cosmet Investig Dermatol
Ye J, Li W, Yang X, Shi Y, Lv W.
europepmc   +1 more source

Nagashima-type palmoplantar keratoderma

Indian Journal of Dermatology, Venereology and Leprology
Tai-Li, Chen, Cheng-Yuan, Li
openaire   +2 more sources