Works matching DE "FAMILY counseling"


Results: 1293
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    FROM EDITORS.

    Published in:
    Annals of Theology / Roczniki Teologiczne, 2024, v. 71, p. 9
    Publication type:
    Article
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    Mortality in Pedigrees with Acute Intermittent Porphyria.

    Published in:
    Life (2075-1729), 2022, v. 12, n. 12, p. 2059, doi. 10.3390/life12122059
    By:
    • Neeleman, Rochus;
    • Musters, Kyra;
    • Wagenmakers, Margreet;
    • Mijnhout, Sophie;
    • Friesema, Edith;
    • Sijbrands, Eric;
    • Langendonk, Janneke
    Publication type:
    Article
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    Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

    Published in:
    Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1276238
    By:
    • Witzel, Maximilian G. W.;
    • Gebhard, Christian;
    • Wenzel, Sören;
    • Kleier, Saskia;
    • Eichhorn, Birgit;
    • Lorenz, Peter;
    • von der Heyden, Laura;
    • Kuhn, Marius;
    • Luedeke, Manuel;
    • Döcker, Miriam;
    • Jüngling, Jerome;
    • Schulte, Björn;
    • Hörtnagel, Konstanze;
    • Glaubitz, Ralf;
    • Knippenberger, Sarah;
    • Teubert, Anna;
    • Abicht, Angela;
    • Neuhann, Teresa M.
    Publication type:
    Article
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    Genotype–Phenotype Correlations of Nance–Horan Syndrome in Male and Female Carriers of a Novel Variant.

    Published in:
    Genes, 2025, v. 16, n. 1, p. 91, doi. 10.3390/genes16010091
    By:
    • Zin, Olivia A.;
    • Neves, Luiza M.;
    • Motta, Fabiana L.;
    • Junior, Daltro C.;
    • Cunha, Daniela P.;
    • Agonigi, Bruna N. S.;
    • Malacarne, Jocieli;
    • Rodrigues, Ana Paula S.;
    • Rodrigues, Gabriela D.;
    • Tinoco, Maria Luisa C.;
    • Horovitz, Dafne D. G.;
    • Carvalho, Adriana B.;
    • Zin, Andrea A.;
    • Vasconcelos, Zilton F. M.;
    • Sallum, Juliana M. Ferraz
    Publication type:
    Article
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    12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 780, doi. 10.3390/genes13050780
    By:
    • Recalcati, Maria Paola;
    • Catusi, Ilaria;
    • Garzo, Maria;
    • Redaelli, Serena;
    • Massimello, Marta;
    • Maitz, Silvia Beatrice;
    • Gentile, Mattia;
    • Ponzi, Emanuela;
    • Orsini, Paola;
    • Zilio, Anna;
    • Montaldi, Annamaria;
    • Calò, Annapaola;
    • Capra, Anna Paola;
    • Briuglia, Silvana;
    • La Rosa, Maria Angela;
    • Grillo, Lucia;
    • Romano, Corrado;
    • Bianca, Sebastiano;
    • Malacarne, Michela;
    • Busè, Martina
    Publication type:
    Article
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    Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 760, doi. 10.3390/genes13050760
    By:
    • Cotta, Ana;
    • Souza, Lucas Santos;
    • Carvalho, Elmano;
    • Feitosa, Leticia Nogueira;
    • Cunha Jr., Antonio;
    • Navarro, Monica Machado;
    • Valicek, Jaquelin;
    • Menezes, Miriam Melo;
    • Neves, Simone Vilela Nunes;
    • Xavier-Neto, Rafael;
    • Vargas, Antonio Pedro;
    • Takata, Reinaldo Issao;
    • Paim, Julia Filardi;
    • Vainzof, Mariz
    Publication type:
    Article
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