Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 1

Results: 45
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    X‐Linked intellectual disability update 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008
    By:
    • Schwartz, Charles E.;
    • Louie, Raymond J.;
    • Toutain, Annick;
    • Skinner, Cindy;
    • Friez, Michael J.;
    • Stevenson, Roger E.
    Publication type:
    Article
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    Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
    By:
    • Maia, Nuno;
    • Ibarluzea, Nekane;
    • Misra‐Isrie, Mala;
    • Koboldt, Daniel C.;
    • Marques, Isabel;
    • Soares, Gabriela;
    • Santos, Rosário;
    • Marcelis, Carlo L. M.;
    • Keski‐Filppula, Riikka;
    • Guitart, Miriam;
    • Gabau Vila, Elisabeth;
    • Lehman, April;
    • Hickey, Scott;
    • Mori, Mari;
    • Terhal, Paulien;
    • Valenzuela, Irene;
    • Lasa‐Aranzasti, Amaia;
    • Cueto‐González, Anna Maria;
    • Chhouk, Brian H.;
    • Yeh, Rebecca C.
    Publication type:
    Article
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    Mosaic Williams syndrome: A case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 249, doi. 10.1002/ajmg.a.63002
    By:
    • Kalantari, Silvia;
    • Biagio, Marta Di;
    • Valente, Enza Maria;
    • Rossi, Elena;
    • Sirchia, Fabio
    Publication type:
    Article
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    A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
    By:
    • Álvarez, Luis Francisco González;
    • Tenorio‐Castaño, Jair;
    • Poletta, Fernando A.;
    • Santos‐Simarro, Fernando;
    • Arias, Pedro;
    • Gallego, Natalia;
    • Orioli, Iêda Maria;
    • Mundlos, Stefan;
    • Castilla, Eduardo E.;
    • Martínez‐Glez, Víctor;
    • Martínez‐Frías, María Luisa;
    • Ruiz‐Pérez, Víctor L.;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Cornelia de Lange syndrome and cancer: An open question.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 292, doi. 10.1002/ajmg.a.62992
    By:
    • Pallotta, Maria M.;
    • Di Nardo, Maddalena;
    • Hennekam, Raoul C. M.;
    • Kaiser, Frank J.;
    • Parenti, Ilaria;
    • Pié, Juan;
    • Ramos, Feliciano J.;
    • Kline, Antonie D.;
    • Musio, Antonio
    Publication type:
    Article
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    Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 84, doi. 10.1002/ajmg.a.62990
    By:
    • Ghisleni, Cecilia;
    • Parma, Barbara;
    • Cianci, Paola;
    • De Paoli, Anita;
    • Pangallo, Elisabetta;
    • Agovino, Teresa;
    • Cereda, Anna;
    • Bedeschi, Maria Francesca;
    • Villa, Roberta;
    • Fossati, Chiara;
    • Modena, Piergiorgio;
    • Giudici, Carolina;
    • Morando, Carla;
    • Memo, Luigi;
    • Onesimo, Roberta;
    • Zampino, Giuseppe;
    • Salvatore, Silvia;
    • Agosti, Massimo;
    • Selicorni, Angelo
    Publication type:
    Article
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    Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
    By:
    • Ranza, Emmanuelle;
    • Le Gouez, Morgane;
    • Guimier, Anne;
    • Dunlop, Naziha Khen;
    • Beaudoin, Sylvie;
    • Malan, Valérie;
    • Michot, Caroline;
    • Baujat, Geneviève;
    • Rio, Marlène;
    • Cormier‐Daire, Valérie;
    • Abadie, Véronique;
    • Sarnacki, Sabine;
    • Delacourt, Christophe;
    • Lyonnet, Stanislas;
    • Attié‐Bitach, Tania;
    • Pingault, Véronique;
    • Rousseau, Véronique;
    • Amiel, Jeanne
    Publication type:
    Article
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    Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
    By:
    • Jouret, Guillaume;
    • Egloff, Matthieu;
    • Landais, Emilie;
    • Tassy, Olivier;
    • Giuliano, Fabienne;
    • Karmous‐Benailly, Houda;
    • Coutton, Charles;
    • Satre, Véronique;
    • Devillard, Françoise;
    • Dieterich, Klaus;
    • Vieville, Gaëlle;
    • Kuentz, Paul;
    • le Caignec, Cédric;
    • Beneteau, Claire;
    • Isidor, Bertrand;
    • Nizon, Mathilde;
    • Callier, Patrick;
    • Marquet, Valentine;
    • Bieth, Eric;
    • Lévy, Jonathan
    Publication type:
    Article
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    Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 37, doi. 10.1002/ajmg.a.62982
    By:
    • Yamaguchi, Tomomi;
    • Hayashi, Shujiro;
    • Hayashi, Daisuke;
    • Matsuyama, Takeshi;
    • Koitabashi, Norimichi;
    • Ogiwara, Kenichi;
    • Noda, Masaaki;
    • Nakada, Chiai;
    • Fujiki, Shinya;
    • Furutachi, Akira;
    • Tanabe, Yasuhiko;
    • Yamanaka, Michiko;
    • Ishikawa, Aki;
    • Mizukami, Miyako;
    • Mizuguchi, Asako;
    • Sugiura, Kazumitsu;
    • Sumi, Makoto;
    • Yamazawa, Hirokuni;
    • Izawa, Atsushi;
    • Wada, Yuko
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 11, doi. 10.1002/ajmg.a.62787
    Publication type:
    Article
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    Publication schedule for 2023.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 7, doi. 10.1002/ajmg.a.62784
    Publication type:
    Article
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