Works matching DE "DYSGENESIS"

Results: 302
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    Primary mesodermal dysgenesis of the cornea (Peter's anomaly).

    Published in:
    Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2022, n. 2, p. 65, doi. 10.31288/oftalmolzh202226567
    By:
    • Garduño Vieyra, Leopoldo;
    • Rúa Martínez, Raúl;
    • Rodríguez Hernández, Francisco Javier;
    • De la Fuente Batta, Isabel
    Publication type:
    Article
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    PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634
    By:
    • Dafsari, Hormos Salimi;
    • Pemberton, Joshua G.;
    • Ferrer, Elizabeth A.;
    • Yammine, Tony;
    • Farra, Chantal;
    • Mohammadi, Mohammad Hasan;
    • Karimiani, Ehsan Ghayoor;
    • Hashemi, Narges;
    • Souaid, Mirna;
    • Sabbagh, Sandra;
    • Torbati, Paria Najarzadeh;
    • Khan, Suliman;
    • Roze, Emmanuel;
    • Moreno-De-Luca, Andres;
    • Bertoli-Avella, Aida M.;
    • Houlden, Henry;
    • Balla, Tamas;
    • Maroofian, Reza
    Publication type:
    Article
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    CORPUS CALLOSUM DYSGENESIS AND COLPOCEPHALY.

    Published in:
    2013
    By:
    • Ciurea, Roxana Beatrice;
    • Mihailescu, Gabriela;
    • Anton, Ruxandra Maria;
    • Parvu, Delia;
    • Nica, Sanda Maria;
    • Pavel, Georgiana;
    • Buraga, Ioan;
    • Popescu, Bogdan O.
    Publication type:
    Case Study
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    Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes.

    Published in:
    Gynecological Endocrinology, 2019, v. 35, n. 9, p. 772, doi. 10.1080/09513590.2019.1582626
    By:
    • Barrientos-Rios, Rehotbevely;
    • Frias, Sara;
    • Velázquez-Aragón, José A.;
    • Villaroel, Camilo E.;
    • Sánchez, Silvia;
    • Molina, Bertha;
    • Martínez, Angélica;
    • Carnevale, Alessandra;
    • García-de-Teresa, Benilde;
    • Bonilla, Edmundo;
    • Alvarado-Araiza, Christian David;
    • Valderrama-Hernández, Alejandro;
    • Ríos-Gallardo, Paul Tadeo;
    • Calzada-León, Raúl;
    • Altamirano-Bustamante, Nelly;
    • Torres, Leda
    Publication type:
    Article
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    The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis.

    Published in:
    PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052685
    By:
    • van Engelen, Klaartje;
    • Mommersteeg, Mathilda T. M.;
    • Baars, Marieke J. H.;
    • Jan Lam;
    • Ilgun, Aho;
    • van Trotsenburg, A. S. Paul;
    • Smets, Anne M. J. B.;
    • Christoffels, Vincent M.;
    • Mulder, Barbara J. M.;
    • Postma, Alex V.
    Publication type:
    Article
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    A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation.

    Published in:
    PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040858
    By:
    • Hersmus, Remko;
    • Van der Zwan, Yvonne G.;
    • Stoop, Hans;
    • Bernard, Pascal;
    • Sreenivasan, Rajini;
    • Oosterhuis, Wolter;
    • Brüggenwirth, Hennie T.;
    • De Boer, Suzan;
    • White, Stefan;
    • Wolffenbuttel, Katja P.;
    • Alders, Marielle;
    • McElreavy, Kenneth;
    • Drop, Stenvert L. S.;
    • Harley, Vincent R.;
    • Looijenga, Leendert H. J.
    Publication type:
    Article