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Human Molecular Genetics|April 4, 2017
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrierMélanie Pichery, Anne Huchenq, Roger Sandhoff, et al.
European Journal of Human Genetics : EJHG|January 10, 2002
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutationsM Medlej-Hashim, I Petit, S Adib, et al.
Human Mutation|March 27, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. OnlineA Taillandier, L Zurutuza, F Muller, et al.
The Science of the Total Environment|August 25, 2014
Water quality, weather and environmental factors associated with fecal indicator organism density in beach sand at two recreational marine beachesChristopher D Heaney, Natalie G Exum, Alfred P Dufour, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 16, 2023
Influenza A virus exploits transferrin receptor recycling to enter host cellsBeryl Mazel-Sanchez, Chengyue Niu, Nathalia Williams, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|June 6, 2022
Separation of Branched Alkanes Feeds by a Synergistic Action of Zeolite and Metal-Organic FrameworkPedro F Brântuas, Adriano Henrique, Mohammad Wahiduzzaman, et al.
Tropical Medicine & International Health : TM & IH|January 18, 2023
Imported Strongyloides stercoralis infection and diabetes mellitus and other metabolic diseases: Is there any association?Fernando Salvador, Daniel Galvis, Begoña Treviño, et al.
Small (Weinheim an Der Bergstrasse, Germany)|August 10, 2018
GraftFast Surface Engineering to Improve MOF Nanoparticles FurtivenessMónica Giménez-Marqués, Elena Bellido, Thomas Berthelot, et al.
Tropical Medicine and Health|June 6, 2026
Soil-transmitted helminth infections among migrants and travelers: a 10-year retrospective studyIzar Blazquez-Bermejo, Fernando Salvador, Elena Sulleiro, et al.
Neuropathology and Applied Neurobiology|December 11, 2025
Spinal and Leptomeningeal Infantile Glioma With Raf1 Fusion: Diagnostic Challenges for a Potentially Novel Tumour TypeArnault Tauziède-Espariat, Alice Métais, Kathleen Schieffer, et al.
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