Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 1

Results: 24
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    Growth charts in DYRK1A syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
    By:
    • Lanvin, Pierre‐Louis;
    • Goronflot, Thomas;
    • Isidor, Bertrand;
    • Nizon, Mathilde;
    • Durand, Benjamin;
    • El Chehadeh, Salima;
    • Geneviève, David;
    • Ruault, Valentin;
    • Fradin, Mélanie;
    • Pasquier, Laurent;
    • Thévenon, Julien;
    • Delobel, Bruno;
    • Burglen, Lydie;
    • Afenjar, Alexandra;
    • Faivre, Laurence;
    • Francannet, Christine;
    • Guerrot, Anne‐Marie;
    • Goldenberg, Alice;
    • Mercier, Sandra;
    • Héron, Delphine
    Publication type:
    Article
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    An atypical Aymé‐Gripp phenotype detected by exome sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 70, doi. 10.1002/ajmg.a.63406
    By:
    • Caiazza, Martina;
    • Budillon, Alberto;
    • Monda, Emanuele;
    • Aruta, Giustina;
    • Esposito, Augusto;
    • Del Vecchio Blanco, Francesca;
    • Piluso, Giulio;
    • Nigro, Vincenzo;
    • Scarano, Gioacchino;
    • Limongelli, Giuseppe
    Publication type:
    Article
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    Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
    By:
    • Nriagu, Bede N.;
    • Williams, Lydia S.;
    • Brewer, Niambi;
    • Surrey, Lea F.;
    • Srinivasan, Abhay S.;
    • Li, Dong;
    • Britt, Allison;
    • Treat, James;
    • Crowley, T. Blaine;
    • O'Connor, Nora;
    • Ganguly, Arupa;
    • Low, David;
    • Queenan, Maria;
    • Drivas, Theodore G.;
    • Zackai, Elaine H.;
    • Adams, Denise M.;
    • Hakonarson, Hakon;
    • Snyder, Kristen M.;
    • Sheppard, Sarah E.
    Publication type:
    Article
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    De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
    By:
    • Ward, Scott K.;
    • Wadley, Alexandrea;
    • Tsai, Chun‐hui;
    • Benke, Paul J.;
    • Emrick, Lisa;
    • Fisher, Kristen;
    • Houck, Kimberly M.;
    • Dai, Hongzheng;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin
    Publication type:
    Article
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    ZFHX4 truncating variant and orofacial clefting.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 115, doi. 10.1002/ajmg.a.63353
    By:
    • Sorrentino, Ugo;
    • Fedrigo, Marny;
    • Calò, Anna Paola;
    • Perin, Martina;
    • Veronese, Paola;
    • Salviati, Leonardo
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 8, doi. 10.1002/ajmg.a.63254
    Publication type:
    Article
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    In Memoriam: John M. Opitz, MD.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 5, doi. 10.1002/ajmg.a.63252
    Publication type:
    Article