Results 171 to 180 of about 14,748 (240)

Displasia arritmogénica do ventrículo direito [PDF]

, 2012
Maria Teresa Almeida e Sousa Martins da Rocha
core  

A Newly Documented Rare Case of Pachyonychia Congenita II in a Three-Month-Old Baby. [PDF]

Case Rep Dermatol Med
Youness Z, Hallal M, Makhoul R.
europepmc   +1 more source

Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy [PDF]

, 2016
Castelletti, S, Kelsell, DP, Maruthappu, T, McKenna, WJ, O'Toole, E, Posafalvi, A, Syrris, P   +6 more
core  

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome). [PDF]

Orphanet J Rare Dis
Binfadel M, Aleem MU, Alhabdan M, Alruwaili N, AlHassnan Z, Vriz O, Tulbah S, Albert-Brotons DC.   +7 more
europepmc   +1 more source

Severe palmoplantar keratoderma: a cutaneous complication from sub-optimally controlled type 2 diabetes. [PDF]

Endocrinol Diabetes Metab Case Rep
Iqbal F, Phan K, Cheung WN.
europepmc   +1 more source

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma. [PDF]

Br J Dermatol
Jiang X, Mortlock RD, Lomakin IB, Zhou J, Hu R, Cossio ML, Bunick CG, Choate KA.   +7 more
europepmc   +1 more source

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy. [PDF]

JACC Case Rep
Giannoni A, Modena M, Montuoro S, Bonanni F, Grigoratos C, Barison A, Todiere G, Rossi A, Vittorini S, Emdin M, Botto N.   +10 more
europepmc   +1 more source

Novel Compound Heterozygous Variants of <i>DSP</i> Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review. [PDF]

Case Rep Dermatol
Yang M, Zhang G, Luo S.
europepmc   +1 more source

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report. [PDF]

Front Med (Lausanne)
Zhang J, Guo M, Yuan D, Wei J, Cui H.
europepmc   +1 more source