Works matching DE "GENETIC testing"

Results: 5000
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    A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03702-7
    By:
    • Balci, Mehmet Cihan;
    • Kor, Deniz;
    • Yildiz, Yilmaz;
    • Karaca, Meryem;
    • Bulut, Fatma Derya;
    • Kahraman, Ayca Burcu;
    • Yesil, Alihan;
    • Burgac, Ezgi;
    • Ciki, Kismet;
    • Selamioglu, Arzu;
    • Koseci, Burcu;
    • Durmus, Asli;
    • Kaplan, Irem;
    • Kara, Esra;
    • Mungan, Halise Neslihan;
    • Sivri, Serap;
    • Gokcay, Gulden Fatma;
    • Tokatli, Aysegul;
    • Demirkol, Mubeccel;
    • Coskun, Turgay
    Publication type:
    Article
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    A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03702-7
    By:
    • Balci, Mehmet Cihan;
    • Kor, Deniz;
    • Yildiz, Yilmaz;
    • Karaca, Meryem;
    • Bulut, Fatma Derya;
    • Kahraman, Ayca Burcu;
    • Yesil, Alihan;
    • Burgac, Ezgi;
    • Ciki, Kismet;
    • Selamioglu, Arzu;
    • Koseci, Burcu;
    • Durmus, Asli;
    • Kaplan, Irem;
    • Kara, Esra;
    • Mungan, Halise Neslihan;
    • Sivri, Serap;
    • Gokcay, Gulden Fatma;
    • Tokatli, Aysegul;
    • Demirkol, Mubeccel;
    • Coskun, Turgay
    Publication type:
    Article
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    Hemoglobinopathy Proficiency Testing: Comment.

    Published in:
    Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 8, p. 696, doi. 10.5858/arpa.2025-0024-LE
    By:
    • Daungsupawong, Hinpetch;
    • Wiwanitkit, Viroj
    Publication type:
    Article
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    NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 3, p. 318, doi. 10.1111/cge.14736
    By:
    • Malfatti, Edoardo;
    • Caramizaru, Alexandru;
    • Lee, Hane;
    • Kim, JiHye;
    • Shoaito, Hussein;
    • Pennisi, Alessandra;
    • Souvannanorath, Sarah;
    • Authier, François‐Jérôme;
    • Dumitrescu, Andreea;
    • Fahmy, Nagia;
    • Escobar‐Cedillo, Rosa Elena;
    • Miranda‐Duarte, Antonio;
    • Luna‐Angulo, Alexandra Berenice;
    • Nouioua, Sonia;
    • Benchaabi, Ouissem;
    • Tazir, Meriem;
    • Hallal, Sihem;
    • Martinez, Peggy;
    • Castiglioni, Claudia;
    • Dobrescu, Amelia
    Publication type:
    Article
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    Large-scale copy number variant analysis in genes linked to Parkinson´s disease.

    Published in:
    NPJ Parkinson's Disease, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41531-025-01076-y
    By:
    • Landoulsi, Zied;
    • Lohmann, Katja;
    • Vollstedt, Eva-Juliane;
    • Wedgwood-Benn, Emily;
    • Niestroj, Lisa-Marie;
    • Laabs, Björn-Hergen;
    • Sendel, Sebastian;
    • Balck, Alexander;
    • Borsche, Max;
    • Lal, Dennis;
    • Grünewald, Anne;
    • Brüggemann, Norbert;
    • Franke, Andre;
    • Hicks, Andrew;
    • Kasten, Meike;
    • Zeuner, Kirsten E.;
    • Lange, Lara M.;
    • Lieb, Wolfgang;
    • Mollenhauer, Brit;
    • Pawlack, Heike
    Publication type:
    Article
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    Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

    Published in:
    Journal of the Royal Society of New Zealand, 2025, v. 55, n. 6, p. 2464, doi. 10.1080/03036758.2024.2394128
    By:
    • Musgrave, Suzanne M.;
    • Taylor, Juliet;
    • Whitford, Whitney;
    • Garton, Alexandra;
    • Poquérusse, Jessie;
    • Hawkins, Victoria;
    • Port, Waiora;
    • Moodley, Kriebashne S.;
    • Monk, Ruth;
    • Knowles, Sarah D.;
    • Walker, Caroline;
    • Samson, Christopher;
    • Velzian, Lydia;
    • Swan, Brendan;
    • Love, Donald R.;
    • Hill, Rosamund;
    • Muir, Colette;
    • Talkowski, Michael E.;
    • Lowther, Chelsea;
    • Snell, Russell G.
    Publication type:
    Article
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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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