Results 191 to 200 of about 18,146 (216)

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Journal of Investigative Dermatology, 2013
Susanne Brodesser, Peter Nürnberg, Anthony H Futerman   +2 more
exaly  

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British Journal of Dermatology, 2020
Jacqueline Simpson, Alexandros Onoufriadis, J E Mellerio   +2 more
exaly  

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability

Hepatology, 2012
Nadya Yousef
exaly  

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

PLoS Genetics, 2013
Franz P W Radner, Judith Fischer
exaly  

Ichthyosis

1985
L. Fry, M. N. P. Cornell
openaire   +2 more sources

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

American Journal of Human Genetics, 2007
Lina Basel-Vanagaite
exaly  

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2014
Peter M Elias
exaly  

Whole‐exome sequencing for diagnosis of hereditary ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2018
J. Sitek, M. Kulseth, K. Rypdal, T. Skodje, Y. Sheng, L. Retterstøl   +5 more
semanticscholar   +1 more source

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Gastroenterology, 2004
Pierre Vabres, Stanislas Lyonnet
exaly  

Ichthyosis.

Dermatologische Wochenschrift, 2004
openaire   +3 more sources