Works matching DE "PHENOTYPES"


Results: 5000
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    The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.

    Published in:
    Diagnostics (2075-4418), 2025, v. 15, n. 10, p. 1284, doi. 10.3390/diagnostics15101284
    By:
    • Yasin, Norafiza Mohd;
    • Hassan, Syahzuwan;
    • Aziz, Nur Aisyah;
    • Abdul Hamid, Faidatul Syazlin;
    • Esa, Ezalia;
    • Zulkefli, Ezzanie Suffya;
    • Ghazali, Rohana;
    • Tajuddin, Syirah Nazirah;
    • Darawi, Mohd Nazif;
    • Yusoff, Yuslina Mat;
    • Harteveld, Cornelis L.
    Publication type:
    Article
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    Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.

    Published in:
    Biomolecules (2218-273X), 2025, v. 15, n. 5, p. 708, doi. 10.3390/biom15050708
    By:
    • Marin-Quilez, Ana;
    • García-Tuñón, Ignacio;
    • Benito, Rocío;
    • Ordoñez, José Luis;
    • Díaz-Ajenjo, Lorena;
    • Lama-Villanueva, Ana;
    • Guerrero, Carmen;
    • Pérez-Losada, Jesús;
    • González-Porras, José Ramón;
    • Hernández-Rivas, Jesús María;
    • del Rey, Mónica;
    • Bastida, José María
    Publication type:
    Article
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    Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 191, doi. 10.4274/jcrpe.galenos.2024.2024-8-14
    By:
    • Büyükyılmaz, Gönül;
    • Çavdarlı, Büşranur;
    • Koca, Serkan Bilge;
    • Adıgüzel, Keziban Toksoy;
    • Topaloğlu, Oya;
    • Aydın, Cevdet;
    • Hepşen, Sema;
    • Çakal, Erman;
    • Gündüz, Nur Semerci;
    • Boyraz, Mehmet;
    • Gürbüz, Fatih;
    • Demirbilek, Hüseyin
    Publication type:
    Article
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    Rosacea a její léčba.

    Published in:
    Dermatologie Pro Praxi, 2025, v. 19, n. 2, p. 64, doi. 10.36290/der.2025.009
    By:
    • Teplanová, Jana
    Publication type:
    Article
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    Reply to Expanding the Phenotypic Spectrum of SecVAUS: Report of Two Cases.

    Published in:
    Pediatric Dermatology, 2025, v. 42, n. 3, p. 681, doi. 10.1111/pde.15800
    By:
    • Ivars, Marta;
    • Frieden, Ilona J.;
    • Provini, Lauren;
    • Wassef, Michel;
    • Weibel, Lisa;
    • Theiler, Martin;
    • Lanoel, Agustina;
    • Martinez‐Glez, Victor;
    • Rodriguez‐Laguna, Lara;
    • van der Vleuten, Carine;
    • Guibaud, Laurent;
    • Puttgen, Katherine;
    • Azaña‐Defez, Jose Manuel;
    • Chamlin, Sarah;
    • Drolet, Beth;
    • Torres, Natalia;
    • Wyrzykowsky, Dariusz;
    • Colmenero, Isabel;
    • Lopez‐Gutierrez, Juan Carlos
    Publication type:
    Article
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