Works matching DE "PHENOTYPES"

Results: 5000
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    Kendi kendine iyileşen kollodiyon bebek: Olgu sunumu.

    Published in:
    Turkderm - Turkish Archives of Dermatology & Venereology, 2025, v. 59, n. 2, p. 74, doi. 10.4274/turkderm.galenos.2024.23080
    By:
    • Boyvadoğlu, Çağdaş;
    • Tan, Fatih;
    • İnaloz, Hüseyin Serhat
    Publication type:
    Article
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    HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047
    By:
    • Lee, Eun Hye;
    • Kim‐Mcmanus, Olivia;
    • Yang, Jennifer H.;
    • Haas, Richard;
    • Zaki, Maha S.;
    • Abdel‐Salam, Ghada M. H.;
    • Nakamura, Yuji;
    • Abdel‐Hamind, Mohamed S.;
    • Ebrahimi‐Fakhari, Darius;
    • Alecu, Julian E.;
    • Brunetti‐Pierri, Nicola;
    • Srinivasan, Varunvenkat M.;
    • Gowda, Vykuntaraju K.;
    • Gross, Stephanie;
    • Alanay, Yasemin;
    • Najarzadeh Totbati, Paria;
    • Yadavilli, Manya;
    • Friedman, Liana;
    • Ojeda, Naomi Meave;
    • Gleeson, Joseph G.
    Publication type:
    Article
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    Loss of conserved long non-coding RNA MIR503HG leads to altered NOTCH pathway signalling and left ventricular non-compaction cardiomyopathy Open Access.

    Published in:
    Cardiovascular Research, 2025, v. 121, n. 7, p. 988, doi. 10.1093/cvr/cvaf043
    By:
    • Monteiro, João P;
    • Saha, Diptarka;
    • Spiroski, Ana-Mishel;
    • Mahesh, Saiba;
    • Kaltzis, Peter;
    • Nadavallil, Abhijit;
    • Janbandhu, Vaibhao;
    • Murray, Nicholas J;
    • Severi, Francesco;
    • Pace, Azzurra Laura De;
    • Sánchez-Esteban, Sandra;
    • Rodor, Julie;
    • Beqqali, Abdelaziz;
    • Bennett, Matthew;
    • Stewart, Kevin;
    • Thomson, Adrian;
    • Hadoke, Patrick W F;
    • Markose, Dyana;
    • Wilson-Kanamori, John R;
    • Henderson, Neil C
    Publication type:
    Article
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    Phenotype to genotype: A new and rapid approach using whole-genome sequencing.

    Published in:
    PLoS Genetics, 2025, v. 21, n. 7, p. 1, doi. 10.1371/journal.pgen.1011702
    By:
    • Feltes, McKenna;
    • Zimin, Aleksey V.;
    • Angel, Sofia;
    • Pansari, Nainika;
    • Hensley, Monica R.;
    • Anderson, Jennifer L.;
    • Shen, Meng-Chieh;
    • Klemek, Mackenzie;
    • Shen, Yi;
    • Ginde, Vighnesh S.;
    • Kozan, Hannah;
    • Le, Nhan V.;
    • Truong, Vivian P.;
    • Wilson, Meredith H.;
    • Salzberg, Steven L.;
    • Farber, Steven A.
    Publication type:
    Article
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    The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data.

    Published in:
    BMC Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12916-025-04221-9
    By:
    • Bizuneh, Asmamaw Demis;
    • Kiconco, Sylvia;
    • Earnest, Arul;
    • Khomami, Mahnaz Bahri;
    • Dhungana, Raja Ram;
    • Azziz, Ricardo;
    • Suturina, Larisa V.;
    • Zhao, Xiaomiao;
    • Gambineri, Alessandra;
    • Tehrani, Fahimeh Ramezani;
    • Yildiz, Bulent O.;
    • Kim, Jin Ju;
    • Xu, Liangzhi;
    • Makwe, Christian Chigozie;
    • Teede, Helena J.;
    • Joham, Anju E.;
    • Tay, Chau Thien
    Publication type:
    Article
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    Biologic Therapy in Severe Asthma: A Phenotype-Driven and Targeted Approach.

    Published in:
    Journal of Clinical Medicine, 2025, v. 14, n. 13, p. 4749, doi. 10.3390/jcm14134749
    By:
    • D'Amato, Maria;
    • Pastore, Daniela;
    • Lupia, Chiara;
    • Candia, Claudio;
    • Bruni, Andrea;
    • Garofalo, Eugenio;
    • Longhini, Federico;
    • Maglio, Angelantonio;
    • Petrone, Albino;
    • Vatrella, Alessandro;
    • Pelaia, Girolamo;
    • Pelaia, Corrado
    Publication type:
    Article
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    Paradigm Lost.

    Published in:
    Cancers, 2025, v. 17, n. 13, p. 2187, doi. 10.3390/cancers17132187
    By:
    • Mellor, Jane;
    • Hunter, Ewan;
    • Akoulitchev, Alexandre
    Publication type:
    Article
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    Functional Genomics: From Soybean to Legume.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6323, doi. 10.3390/ijms26136323
    By:
    • Zhou, Can;
    • Wang, Haiyan;
    • Zhu, Xiaobin;
    • Li, Yuqiu;
    • Zhang, Bo;
    • Tadege, Million;
    • Wu, Shihao;
    • Qi, Zhaoming;
    • Xia, Zhengjun
    Publication type:
    Article
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    Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6258, doi. 10.3390/ijms26136258
    By:
    • Gombojav, Bayasgalan;
    • Erdenechuluun, Jargalkhuu;
    • Batsaikhan, Tserendulam;
    • Danshiitsoodol, Narandalai;
    • Makhbal, Zaya;
    • Jargalmaa, Maralgoo;
    • Jargalkhuu, Tuvshinbayar;
    • Lu, Yue-Sheng;
    • Lin, Pei-Hsuan;
    • Hsu, Jacob Shu-Jui;
    • Tsai, Cheng-Yu;
    • Wu, Chen-Chi
    Publication type:
    Article
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