Results 171 to 180 of about 1,627,653 (237)

Linear psoriasis and Koebner phenomenon: A review. [PDF]

J Res Med Sci
Zheng L, Han X, Zheng H, Zhang Y.
europepmc   +1 more source

Identification of a distinctive gene signature associated with disease activity in granulomatous myositis. [PDF]

Rheumatology (Oxford)
Pinal-Fernandez I, Ruffer N, Casal-Dominguez M, Pak K, Kleefeld F, Preusse C, Kirou RA, Kinder TB, Del Orso S, Naz F, Islam S, Gutierrez-Cruz G, Milone M, Selva-O'Callaghan A, Milisenda JC, Schneider U, Liewluck T, Stenzel W, Mammen AL.   +18 more
europepmc   +1 more source

Exploring Patterns of Palmar Hyperlinearity in Pediatric Population With Atopic Dermatitis or Ichthyosis Vulgaris Attending a Tertiary Care Hospital in Jaipur, India. [PDF]

Cureus
Goyal A, Gupta R, Singhani R, Dhakar P, Bhardwaj S, Parmar A.   +5 more
europepmc   +1 more source

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum. [PDF]

RMD Open
Anselmi F, Frémond ML, Remaux H, Laurent A, Fieschi C, Schvartz A, Desdoits A, Besse MC, Jesiorski E, Boursier G, Cuisset L, Dusser P, Koné-Paut I.   +12 more
europepmc   +1 more source

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes. [PDF]

BMC Med Genomics
Wang M, Ji Y, Xu Y, Sun S, Yang X, Sun L, Wu Q.   +6 more
europepmc   +1 more source

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What’s New in Genetic Skin Diseases

Dermatologic Clinics, 2019
The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few
Callie R, Hill, Amy, Theos
openaire   +3 more sources

Genetic skin diseases

Current Opinion in Pediatrics, 1994
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
J. S. Francis
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Molecular advances in genetic skin diseases

Current Opinion in Pediatrics, 2002
The genes for several genetic skin diseases have been identified in recent years. This development improves diagnostic capabilities and genetic counseling, and investigators can now turn to the molecular mechanisms involved in the pathogenesis of these diseases.
Dawn H, Siegel, Renee, Howard
openaire   +3 more sources