Results 301 to 307 of about 29,876 (307)
Some of the next articles are maybe not open access.

Ichthyosis

2000
M. Paradisi, A. Giannetti
openaire   +1 more source

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency

Clinical Genetics, 2018
D. Monies   +6 more
semanticscholar   +1 more source

Novel CLDN1 mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease

British Journal of Dermatology, 2018
I. Nagtzaam   +6 more
semanticscholar   +1 more source

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

British Journal of Dermatology, 2017
A. Zimmer   +16 more
semanticscholar   +1 more source

Ichthyosis vulgaris

Clinical Genetics, 1979
openaire   +2 more sources

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