Results 261 to 270 of about 528,814 (282)

Congenital lamellar ichthyosis

Klinicheskaya dermatologiya i venerologiya, 2017
openaire   +1 more source

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 SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

American Journal of Human Genetics, 2017
Lisa Heinz, Slaheddine Marrakchi, Hamida Turki   +2 more
exaly  

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

Gastroenterology, 2004
Pierre Vabres, Stanislas Lyonnet
exaly  

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  

[Grave congenital ichthyosis].

Bulletin de la Societe francaise de dermatologie et de syphiligraphie, 2003
F P, MERKLEN, G, SOLENTE, A, DESCHATRES
openaire   +1 more source

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  

Congenital ichthyosis.

Wiener klinische Wochenschrift, 2010
openaire   +1 more source

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