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Št. zadetkov: 4
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Aleš Maver, Borut Peterlin
Izvirni znanstveni članek
Oznake: TSPEAR;Ectodermal dysplasia;enamel knot;WNT10A;hypodontia;conical teeth;zebrafish fin regeneration;extracellular matrix dependant signalling;closca Autosomal recessive ectodermal dysplasia type 14;
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ǂA ǂsolve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke De Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Aleš Maver, Borut Peterlin
Izvirni znanstveni članek
Oznake: ClinVar;developmental disorder;exome reanalysis;rare diseases;
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ǂThe ǂCosmoVerse White Paper
Valentino Di Valentino, Jackson Levi Said, Adam Riess, Agnieszka Pollo, Vivian Poulin, Adrià Gómez-Valent, Amanda Weltman, Antonella Palmese, Caroline D. Huang, T. Petrushevska
Pregledni znanstveni članek
Oznake: cosmology;Hubble tension;
Leto: 2025 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
ǂA ǂmulti-platform approach to identify a blood-based host protein signature for distinguishing between bacterial and viral infections in febrile children (PERFORM)
Heather R. Jackson, Judith Zandstra, Stephanie Menikou, Melissa Shea Hamilton, Andrew J McArdle, Roman Fischer, Adam M Thorne, Marko Pokorn, Mojca Kolnik, Katarina Vincek, Tina Plankar Srovin, Natalija Bahovec, Petra Prunk, Veronika Osterman, Tanja Avramoska
Izvirni znanstveni članek
Oznake: C-reactive protein;antibiotic overuse;virus-infection;resistance;
Background: Differentiating between self-resolving viral infections and bacterial infections in children who are febrile is a common challenge, causing difficulties in identifying which individuals require antibiotics. Studying the host response to infection can provide useful insights and can lead ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 4
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