Works matching Phenotypes


Results: 5000
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    An evaluation of GPT models for phenotype concept recognition.

    Published in:
    BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02439-w
    By:
    • Groza, Tudor;
    • Caufield, Harry;
    • Gration, Dylan;
    • Baynam, Gareth;
    • Haendel, Melissa A.;
    • Robinson, Peter N.;
    • Mungall, Christopher J.;
    • Reese, Justin T.
    Publication type:
    Article
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    The Xenopus phenotype ontology: bridging model organism phenotype data to human health and development.

    Published in:
    BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-04636-8
    By:
    • Fisher, Malcolm E.;
    • Segerdell, Erik;
    • Matentzoglu, Nicolas;
    • Nenni, Mardi J.;
    • Fortriede, Joshua D.;
    • Chu, Stanley;
    • Pells, Troy J.;
    • Osumi-Sutherland, David;
    • Chaturvedi, Praneet;
    • James-Zorn, Christina;
    • Sundararaj, Nivitha;
    • Lotay, Vaneet S.;
    • Ponferrada, Virgilio;
    • Wang, Dong Zhuo;
    • Kim, Eugene;
    • Agalakov, Sergei;
    • Arshinoff, Bradley I.;
    • Karimi, Kamran;
    • Vize, Peter D.;
    • Zorn, Aaron M.
    Publication type:
    Article
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    Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.

    Published in:
    Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1215869
    By:
    • Maassen, Willem;
    • Legger, Geertje;
    • Cinar, Ovgu Kul;
    • van Daele, Paul;
    • Gattorno, Marco;
    • Bader-Meunier, Brigitte;
    • Wouters, Carine;
    • Briggs, Tracy;
    • Johansson, Lennart;
    • van der Velde, Joeri;
    • Swertz, Morris;
    • Omoyinmi, Ebun;
    • Hoppenreijs, Esther;
    • Belot, Alexandre;
    • Eleftheriou, Despina;
    • Caorsi, Roberta;
    • Aeschlimann, Florence;
    • Boursier, Guilaine;
    • Brogan, Paul;
    • Haimel, Matthias
    Publication type:
    Article
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    Pharmacogenetic testing of CYP2D6, CYP2C19 and CYP2C9 in Denmark: Agreement between publicly funded genotyping tests and the subsequent phenotype classification.

    Published in:
    Basic & Clinical Pharmacology & Toxicology, 2024, v. 134, n. 5, p. 756, doi. 10.1111/bcpt.13990
    By:
    • Houlind, Morten Baltzer;
    • Hansen, Luise;
    • Iversen, Esben;
    • Rasmussen, Henrik Berg;
    • Larsen, Jens Borggaard;
    • Jørgensen, Steffen;
    • Dalhoff, Kim;
    • Damkier, Per;
    • Walls, Anne B.;
    • Vermehren, Charlotte;
    • Andersen, Trine Rune Høgh;
    • Kallemose, Thomas;
    • Christrup, Lona;
    • Westergaard, Niels
    Publication type:
    Article
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    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

    Published in:
    Genes, 2022, v. 13, n. 7, p. 1130, doi. 10.3390/genes13071130
    By:
    • Napolitano, Filomena;
    • Dell'Aquila, Milena;
    • Terracciano, Chiara;
    • Franzese, Giuseppina;
    • Gentile, Maria Teresa;
    • Piluso, Giulio;
    • Santoro, Claudia;
    • Colavito, Davide;
    • Patanè, Anna;
    • De Blasiis, Paolo;
    • Sampaolo, Simone;
    • Paladino, Simona;
    • Melone, Mariarosa Anna Beatrice
    Publication type:
    Article
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    Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
    By:
    • Bonaglia, Maria Clara;
    • Ciccone, Roberto;
    • Gimelli, Giorgio;
    • Gimelli, Stefania;
    • Marelli, Susan;
    • Verheij, Joke;
    • Giorda, Roberto;
    • Grasso, Rita;
    • Borgatti, Renato;
    • Pagone, Filomena;
    • Rodrìguez, Laura;
    • Martinez-Frias, Maria-Luisa;
    • van Ravenswaaij, Conny;
    • Zuffardi, Orsetta
    Publication type:
    Article
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