Search Results (36)

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?
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.Academic Article Why?
Connexin disorders of the skin.Academic Article Why?
Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures.Academic Article Why?
Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.Academic Article Why?
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.Academic Article Why?
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.Academic Article Why?
Inherited disorders of desmosomes.Academic Article Why?
Is adermatoglyphia an additional feature of Kindler Syndrome?Academic Article Why?
JAAD grand rounds. JAAD grand rounds quiz: a 64-year-old woman with an annular rash on the arm.Academic Article Why?
Kindler syndrome: a new mutation and new diagnostic possibilities.Academic Article Why?
Livedoid vasculopathy associated with plasminogen activator inhibitor-1 promoter homozygosity (4G/4G) treated successfully with tissue plasminogen activator.Academic Article Why?
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