Works matching DE "GENETIC testing"

Results: 5000
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    GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation.

    Published in:
    Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2019, v. 76, n. 5, p. 543, doi. 10.2298/VSP170406120I
    By:
    • Ivančević, Nikola;
    • Cerovac, Nataša;
    • Nikolić, Blažo;
    • Čuturilo, Goran;
    • Marjanović, Ana;
    • Branković, Marija;
    • Novaković, Ivana
    Publication type:
    Article
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    De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.

    Published in:
    Cytogenetic & Genome Research, 2019, v. 157, n. 4, p. 32, doi. 10.1159/000497173
    By:
    • Vittas, Spiros;
    • Efstathiou, George;
    • Tsakalidis, Christos;
    • Malamaki, Christina;
    • antari, Vasiliki;
    • Chatzitoliou, Efthymia;
    • Chatziioannidis, Ilias;
    • Galli-Tsinopoulou, assimina;
    • Soubasi, Vasiliki
    Publication type:
    Article
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    Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

    Published in:
    Australian & New Zealand Journal of Obstetrics & Gynaecology, 2024, v. 64, n. 5, p. 467, doi. 10.1111/ajo.13814
    By:
    • Rogers, Alice;
    • De Jong, Lucas;
    • Waters, Wendy;
    • Rawlings, Lesley H.;
    • Simons, Keryn;
    • Gao, Song;
    • Soubrier, Julien;
    • Kenyon, Rosalie;
    • Lin, Ming;
    • King, Rob;
    • Lawrence, David M.;
    • Muller, Peter;
    • Leblanc, Shannon;
    • McGregor, Lesley;
    • Sallevelt, Suzanne C. E. H.;
    • Liebelt, Jan;
    • Hardy, Tristan S. E.;
    • Fletcher, Janice M.;
    • Scott, Hamish S.;
    • Kulkarni, Abhi
    Publication type:
    Article
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    Association between visual inspection of the cervix with acetic acid examination and high‐risk human papillomavirus infection, Chlamydia trachomatis, Neisseria gonorrhoeae and Trichomonas vaginalis in Papua New Guinea.

    Published in:
    Australian & New Zealand Journal of Obstetrics & Gynaecology, 2018, v. 58, n. 5, p. 576, doi. 10.1111/ajo.12783
    By:
    • Vallely, Andrew J.;
    • Toliman, Pamela J.;
    • Ryan, Claire;
    • Rai, Glennis;
    • Wapling, Johanna;
    • Gabuzzi, Josephine;
    • Kumbia, Antonia;
    • Kombuk, Benny;
    • Kombati, Zure;
    • Vallely, Lisa M.;
    • Kelly‐hanku, Angela;
    • Wand, Handan;
    • Tabrizi, Sepehr N.;
    • Mola, Glen D. L.;
    • Kaldor, John M.
    Publication type:
    Article
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