Results 161 to 170 of about 14,748 (240)

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

Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population. [PDF]

Skin Health Dis
Somani V, Somani A, Annabathula A.
europepmc   +1 more source

Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature. [PDF]

World J Clin Pediatr
Nikitina E, Kofeynikova O, Zlotina A, Pervunina T, Vasichkina E, Golovkin A, Kalinina O, Kostareva A.   +7 more
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  

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

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

Exp Dermatol
Bolling MC, Vermeer MCSC.
europepmc   +1 more source

A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co-Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa. [PDF]

Clin Case Rep
Alrefaie SI, Aljoudi SB, Nukaly HY, Alhawsawi WK, Shadid A, AlNasser S, Hariri J.   +6 more
europepmc   +1 more source

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

Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein. [PDF]

JAAD Case Rep
Mastrangelo M, Pellegrini C, De Luca C, Bruni M, Castiglia D, Antonetti P, Brancati F, Fargnoli MC.   +7 more
europepmc   +1 more source