Thomas Jefferson University

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Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases?Academic Article Why?
Mcgrath, JohnPerson Why?
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.Academic Article Why?
Skin Diseases, GeneticConcept Why?
Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance.Academic Article Why?
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.Academic Article Why?
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.Academic Article Why?
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.Academic Article Why?
A Th2 cytokine interleukin-31 signature in a case of sporadic lichen amyloidosis.Academic Article Why?
An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.Academic Article Why?
An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene.Academic Article Why?
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.Academic Article Why?
Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.Academic Article Why?
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.Academic Article Why?
Connexin disorders of the skin.Academic Article Why?
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