Results 151 to 160 of about 8,647 (203)

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene. [PDF]

Mol Genet Genomic Med
Elmakhzen B, Rollier P, Saillard C, Godey B, Le Marechal C, Gueguen P, Fajardy I, Odent S, Pasquier L.   +8 more
europepmc   +1 more source

Case Report: Severe palmoplantar hyperkeratosis and pain four months post-tepotinib initiation: A hand-foot skin reaction. [PDF]

JAAD Case Rep
Laferté C, Lemieux A.
europepmc   +1 more source

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review. [PDF]

Hum Genomics
Zhang Y, Zhao M, Li X, Zhao Y, Sun Y, Zhang J, Yu C, Zhou C.   +7 more
europepmc   +1 more source

Rekurrens európai misszensz mutáció egy magyar Papillon-Lefévre szindrómában szenvedő családban [PDF]

, 2014
Farkas Katalin, Nagy Katalin, Nagy Nikoletta, Sulák Adrienn, Széll Márta, Tripolszki Kornélia, Vályi Péter   +6 more
core  

Desmoplakin Cardiomyopathy Presenting as Recurrent Myocarditis Treated With Immunosuppression. [PDF]

JACC Case Rep
Abdaem J, Leader N, Ballantyne BA, Shaw J, Coad S, White JA, Kiamanesh O.   +6 more
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  

Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants. [PDF]

Exp Dermatol
Bolling MC, Vermeer MCSC.
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

Efficacy of Bimekizumab in the Management of Refractory Erythrodermic Pityriasis Rubra Pilaris: Clinical Insights. [PDF]

Dermatol Pract Concept
Theotokoglou S, Sgouros D, Theodoropoulos K, Syrmali A, Pappa G, Katoulis A.   +5 more
europepmc   +1 more source

Identification of a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder. [PDF]

Hereditas
Lin D, Lin N, Zhou Y, Li Q, Ma Y.
europepmc   +1 more source